ClinGen — The Clinical Genome Resource
Open accessAbstract
On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient’s family pursues genetic testing that shows a “likely pathogenic” variant for the condition on the basis of a study in an original research publication. Given the dominant inheritance of the condition and the risk of sudden cardiac death, other family members are tested for the genetic variant to determine their risk. Several family members test negative and are told that they are not at risk for hypertrophic cardiomyopathy and sudden cardiac death, and those who test positive are told that they need to be regularly monitored for cardiomyopathy on echocardiography. Five years later, during a routine clinic visit of one of the genotype-positive family members, the cardiologist queries a database for current knowledge on the genetic variant and discovers that the variant is now interpreted as “likely benign” by another laboratory that uses more recently derived population-frequency data. A newly available testing panel for additional genes that are implicated in hypertrophic cardiomyopathy is initiated on an affected family member, and a different variant is found that is determined to be pathogenic. Family members are retested, and one member who previously tested negative is now found to be positive for this new variant. An immediate clinical workup detects evidence of cardiomyopathy, and an intracardiac defibrillator is implanted to reduce the risk of sudden cardiac death.
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Clinical translation of rare disease technologies has benefited from information resources including open databases of genes, clinically interpreted variants, and patient records.
“Clinical translation of these technologies has benefited from a series of information resources, including open databases of genes associated with rare disorders (for example, OMIM and ORPHANET)21, clinically interpreted variants (for example, ClinVar and ClinGen)22,23 and patient records (for example, DECIPHER and MyGene2 (https://mygene2.org/MyGene2))17.”
From A brief history of human disease genetics (2020) · cites this paper as [23]
The remaining 29 are suggested to be due to a combination of incomplete penetrance, late onset of disease, mild symptoms not seeking medical attention, unrecognised technical issues with sequencing or annotation, or dubious evidence to support the gene-phenotype assignment.
“We suggest that the remaining 29 are due to a combination of incomplete penetrance[12–16], late onset of disease (i.e. not yet having occurred), individuals with mild symptoms not seeking medical attention, unrecognised technical issues with sequencing or annotation (e.g. tissue specific alternative splicing), or dubious evidence to support the gene-phenotype assignment”
From Health and population effects of rare gene knockouts in adult humans with related parents (2016) · cites this paper as [13]
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Cites
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works
Self-citationClinVar: public archive of relationships among sequence variation and human phenotype
Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1113 · Cited by 3,516 · see citing works
Self-citationMiller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882 · see citing works
Self-citationNational Center for Biotechnology Information
Gressner, A. M., & Arndt, T. (2019) · Springer Reference Medizin · doi:10.1007/978-3-662-48986-4_301184 · Cited by 2,610 · see citing works
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
Gersh, B. J., Maron, B. J., Bonow, R. O., Dearani, J. A., Fifer, M. A., Link, M. S., Naidu, S. S., Nishimura, R. A., Ommen, S. R., Rakowski, H., et al. (2011) · Circulation · doi:10.1161/cir.0b013e318223e2bd · Cited by 2,105 · see citing works
Replicating genotype–phenotype associations
NCI-NHGRI Working Group on Replication in Association Studies, Chanock, S. J., Manolio, T., Boehnke, M., Boerwinkle, E., Hunter, D. J., Thomas, G., Hirschhorn, J. N., Abecasis, G., Altshuler, D., et al. (2007) · Nature · doi:10.1038/447655a · Cited by 1,352 · see citing works
Self-citation2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
Gersh, B. J., Maron, B. J., Bonow, R. O., Dearani, J. A., Fifer, M. A., Link, M. S., Naidu, S. S., Nishimura, R. A., Ommen, S. R., Rakowski, H., et al. (2011) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2011.06.011 · Cited by 1,276 · see citing works
Precision Medicine — Personalized, Problematic, and Promising
Jameson, J. L., & Longo, D. L. (2015) · New England Journal of Medicine · doi:10.1056/nejmsb1503104 · Cited by 1,116 · see citing works
Kearney, H. M., Thorland, E. C., Brown, K. K., Quintero-Rivera, F., & South, S. T. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182217a3a · Cited by 929 · see citing works
Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk
Easton, D. F., Pharoah, P. D. P., Antoniou, A. C., Tischkowitz, M. D., Tavtigian, S. V., Nathanson, K. L., Devilee, P., Meindl, A., Couch, F. J., Southey, M. C., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmsr1501341 · Cited by 922 · see citing works
Carrier testing for severe childhood recessive diseases by next-generation sequencing
Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., Langley, R. J., Zhang, L., Lee, C. C., Schilkey, F. D., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3001756 · Cited by 706 · see citing works
Sosnay, P. R., Siklosi, K. R., Van Goor, F., Kaniecki, K., Yu, H., Sharma, N., Ramalho, A. S., Amaral, M. D., Dorfman, R., Zielenski, J., et al. (2013) · Nature Genetics · doi:10.1038/ng.2745 · Cited by 630 · see citing works
InSiGHT, O. B. O., Thompson, B. A., Spurdle, A. B., Plazzer, J., Greenblatt, M. S., Akagi, K., Al‐Mulla, F., Bapat, B. V., Bernstein, I., Capellá, G., et al. (2013) · Nature Genetics · doi:10.1038/ng.2854 · Cited by 468 · see citing works
PharmGKB: The Pharmacogenomics Knowledge Base
Thorn, C. F., Klein, T. E., & Altman, R. B. (2013) · Methods in molecular biology · doi:10.1007/978-1-62703-435-7_20 · Cited by 362 · see citing works
Bringing genome-wide association findings into clinical use
Manolio, T. A. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3523 · Cited by 350 · see citing works
Gersh, B. J., Maron, B. J., Bonow, R. O., Dearani, J. A., Fifer, M. A., Link, M. S., Naidu, S. S., Nishimura, R. A., Ommen, S. R., Rakowski, H., et al. (2011) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2011.10.825 · Cited by 279 · see citing works
PhenoTips: Patient Phenotyping Software for Clinical and Research Use
Gîrdea, M., Dumitriu, S., Fiume, M., Bowdin, S. C., Boycott, K. M., Chénier, S., Chitayat, D. A., Faghfoury, H., Meyn, M. S., Ray, P. N., et al. (2013) · Human Mutation · doi:10.1002/humu.22347 · Cited by 250 · see citing works
Andreasen, C., Nielsen, J. B., Refsgaard, L., Holst, A. G., Christensen, A. H., Andreasen, L., Sajadieh, A., Haunsø, S., Svendsen, J. H., & OLESEN, M. S. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.283 · Cited by 215 · see citing works
An informatics approach to analyzing the incidentalome
Berg, J., Adams, M. C., Nassar, N., Bizon, C., Lee, K., Schmitt, C., Wilhelmsen, K., & Evans, J. P. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.112 · Cited by 175 · see citing works
Self-citationSharing Publication-Related Data and Materials: Responsibilities of Authorship in the Life Sciences
Cech, T. R., Eddy, S. R., Eisenberg, D. S., Hersey, K. M., Holtzman, S. H., Poste, G. H., Raikhel, N. V., Scheller, R. H., Singer, D. B., & Waltham, M. (2003) · PLANT PHYSIOLOGY · doi:10.1104/pp.900068 · Cited by 139 · see citing works
PharmGKB: The Pharmacogenetics and Pharmacogenomics Knowledge Base
Thorn, C. F., Klein, T. E., & Altman, R. B. (2005) · Pharmacogenomics · doi:10.1385/1-59259-957-5:179 · Cited by 108 · see citing works
Data use under the NIH GWAS Data Sharing Policy and future directions
Committees, T. N. I. O. H. G. D. S. G. (2014) · Nature Genetics · doi:10.1038/ng.3062 · Cited by 100 · see citing works
Communicating new knowledge on previously reported genetic variants
Aronson, S., Clark, E. H., Varugheese, M., et al. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.19 · Cited by 98 · see citing works
The FDA and Genomic Tests — Getting Regulation Right
Evans, B. J., Burke, W., & Jarvik, G. P. (2015) · New England Journal of Medicine · doi:10.1056/nejmsr1501194 · Cited by 79 · see citing works
P heno DB : A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features
Hamosh, A., Sobreira, N. L. D. M., Hoover-Fong, J. E., Sutton, V. R., Boehm, C. D., Schiettecatte, F., & Valle, D. L. (2013) · Human Mutation · doi:10.1002/humu.22283 · Cited by 70 · see citing works
Sharing data between LSDBs and central repositories
den Dunnen, J. T., Sijmons, R. H., Andersen, P. S., et al. (2009) · Human Mutation · doi:10.1002/humu.20977 · Cited by 18 · see citing works
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Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., et al. (2020) · Cell · doi:10.1016/j.cell.2019.12.036 · Cited by 2,321 · see citing works
“We first collated coordinates of pathogenic ‘‘genomic disorder’’ (GD) regions as reported by nine previous studies (Sanders et al., 2015; Cooper et al., 2011; Wapner et al., 2012; Schaefer et al., 2013; Dittwald et al., 2013; Coe et al., 2014; Pinto et al., 2010; Wright et al., 2015; Rehm et al., 2015) and converted a…”
MethodA genomic mutational constraint map using variation in 76,156 human genomes
Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature · doi:10.1038/s41586-023-06045-0 · Cited by 1,727 · see citing works
Self-citationAshley, E. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.86 · Cited by 1,116 · see citing works
A structural variation reference for medical and population genetics
Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature · doi:10.1038/s41586-020-2287-8 · Cited by 1,037 · see citing works
Accurate classification of BRCA1 variants with saturation genome editing
Findlay, G. M., Daza, R. M., Martin, B., Zhang, M. D., Leith, A. P., Gasperini, M., Janizek, J. D., Huang, X., Starita, L. M., & Shendure, J. (2018) · Nature · doi:10.1038/s41586-018-0461-z · Cited by 843 · see citing works
Disease variant prediction with deep generative models of evolutionary data
Frazer, J., Notin, P., Dias, M., Gomez, A., Min, J. K., Brock, K., Gal, Y., & Marks, D. S. (2021) · Nature · doi:10.1038/s41586-021-04043-8 · Cited by 791 · see citing works
A brief history of human disease genetics
Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697 · see citing works
Self-citationSchultheiss, H.-P., Fairweather, D., Caforio, A. L. P., Escher, F., Hershberger, R. E., Lipshultz, S. E., Liu, P. P., Matsumori, A., Mazzanti, A., McMurray, J., et al. (2019) · Nature Reviews Disease Primers · doi:10.1038/s41572-019-0084-1 · Cited by 720 · see citing works
Griffith, M., Spies, N. C., Krysiak, K., McMichael, J. F., Coffman, A. C., Danos, A. M., Ainscough, B. J., Ramirez, C. A., Rieke, D. T., Kujan, L., et al. (2017) · Nature Genetics · doi:10.1038/ng.3774 · Cited by 628 · see citing works
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research
Morales, J., Pujar, S., Loveland, J. E., Astashyn, A., Bennett, R., Berry, A., Cox, E., Davidson, C., Ermolaeva, O., Farrell, C. M., et al. (2022) · Nature · doi:10.1038/s41586-022-04558-8 · Cited by 571 · see citing works
Polak, P., Kim, J., Braunstein, L. Z., Karlic, R., Haradhavala, N. J., Tiao, G., Rosebrock, D., Livitz, D., Kübler, K., Mouw, K. W., et al. (2017) · Nature Genetics · doi:10.1038/ng.3934 · Cited by 531 · see citing works
The Human Pangenome Project: a global resource to map genomic diversity
Wang, T., Antonacci-Fulton, L., Howe, K., Lawson, H. A., Lucas, J. K., Phillippy, A. M., Popejoy, A. B., Asri, M., Carson, C., Chaisson, M. J. P., et al. (2022) · Nature · doi:10.1038/s41586-022-04601-8 · Cited by 494 · see citing works
Mungall, C. J., McMurry, J. A., Köhler, S., Balhoff, J. P., Borromeo, C., Brush, M., Carbon, S., Conlin, T., Dunn, N., Engelstad, M., et al. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkw1128 · Cited by 441 · see citing works
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.04.003 · Cited by 447 · see citing works
Self-citationPersonalized Medicine and the Power of Electronic Health Records
Abul-Husn, N. S., & Kenny, E. E. (2019) · Cell · doi:10.1016/j.cell.2019.02.039 · Cited by 355 · see citing works
Genetic, environmental, and epigenetic factors involved in CAKUT
Nicolaou, N., Renkema, K. Y., Bongers, E. M. H. F., Giles, R. H., & Knoers, N. V. A. M. (2015) · Nature Reviews Nephrology · doi:10.1038/nrneph.2015.140 · Cited by 344 · see citing works
Health and population effects of rare gene knockouts in adult humans with related parents
Narasimhan, V. M., Hunt, K. A., Mason, D., Baker, C. L., Karczewski, K. J., Barnes, M. R., Barnett, A. H., Bates, C., Bellary, S., Bockett, N. A., et al. (2016) · Science · doi:10.1126/science.aac8624 · Cited by 286 · see citing works
Harrison, S. M., Dolinsky, J. S., Knight Johnson, A. E., Pesaran, T., Azzariti, D. R., Bale, S., Chao, E. C., Das, S., Vincent, L., & Rehm, H. L. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.14 · Cited by 234 · see citing works
Self-citationKidani, Y., Nogami, W., Yasumizu, Y., Kawashima, A., Tanaka, A., Sonoda, Y., Tona, Y., Nashiki, K., Matsumoto, R., Hagiwara, M., et al. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2114282119 · Cited by 212 · see citing works
Yoneda, Z. T., Anderson, K. C., Quintana, J. A., O’Neill, M. J., Sims, R. A., Glazer, A. M., Shaffer, C. M., Crawford, D. M., Stricker, T., Ye, F., et al. (2021) · JAMA Cardiology · doi:10.1001/jamacardio.2021.3370 · Cited by 192 · see citing works
Van Driest, S. L., Wells, Q. S., Stallings, S., Bush, W. S., Gordon, A., Nickerson, D. A., Kim, J. H., Crosslin, D. R., Jarvik, G. P., Carrell, D. S., et al. (2016) · JAMA · doi:10.1001/jama.2015.17701 · Cited by 170 · see citing works
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer
Variant Interpretation for Cancer Consortium, Wagner, A. H., Walsh, B., Mayfield, G., Tamborero, D., Sonkin, D., Krysiak, K., Deu-Pons, J., Duren, R. P., Gao, J., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0603-8 · Cited by 164 · see citing works
A quantitative framework for characterizing the evolutionary history of mammalian gene expression
Chen, J., Swofford, R., Johnson, J., Cummings, B. B., Rogel, N., Lindblad-Toh, K., Haerty, W., Palma, F. D., & Regev, A. (2019) · Genome Research · doi:10.1101/gr.237636.118 · Cited by 128 · see citing works
Rare pathogenic variants predispose to hepatocellular carcinoma in nonalcoholic fatty liver disease
Pelusi, S., Baselli, G., Pietrelli, A., Dongiovanni, P., Donati, B., McCain, M. V., Meroni, M., Fracanzani, A. L., Romagnoli, R., Petta, S., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-39998-2 · Cited by 125 · see citing works
Morales, A., Kinnamon, D. D., Jordan, E., Platt, J., Vatta, M., Dorschner, M. O., Starkey, C. A., Mead, J. O., Ai, T., Burke, W., et al. (2020) · Circulation: Genomic and Precision Medicine · doi:10.1161/circgen.119.002480 · Cited by 114 · see citing works
Self-citationMillichap, J. J., Miceli, F., De Maria, M., Keator, C., Joshi, N., Tran, B., Soldovieri, M. V., Ambrosino, P., Shashi, V., Mikati, M. A., et al. (2017) · Epilepsia · doi:10.1111/epi.13601 · Cited by 103 · see citing works
Mondo: Unifying diseases for the world, by the world
Vasilevsky, N. A., Matentzoglu, N. A., Toro, S., Flack, J. E., Hegde, H., Unni, D. R., Alyea, G. F., Amberger, J. S., Babb, L., Balhoff, J. P., et al. (2022) · doi:10.1101/2022.04.13.22273750 · Cited by 107 · see citing works
Self-citationMcInnes, G., Sharo, A. G., Koleske, M. L., Brown, J. E. H., Norstad, M., Adhikari, A. N., Wang, S., Brenner, S. E., Halpern, J., Koenig, B. A., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.03.003 · Cited by 86 · see citing works
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Cowan, Q. T., Gu, S., Gu, W., Ranzau, B. L., Simonson, T. S., & Komor, A. C. (2025) · Nature Biotechnology · doi:10.1038/s41587-024-02240-0 · Cited by 26 · see citing works
Badonyi, M., & Marsh, J. A. (2025) · Nature Communications · doi:10.1038/s41467-025-63234-3 · Cited by 19 · see citing works
Francis, D. I., Stark, Z., Scheffer, I. E., Tan, T. Y., Murali, K., Gallacher, L., Amor, D. J., Goel, H., Downie, L., Stutterd, C. A., et al. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-022-01232-5 · Cited by 16 · see citing works
Structural variation across 138,134 samples in the TOPMed consortium
Jun, G., English, A., Metcalf, G., Yang, J., Chaisson, M., Pankratz, N., Menon, V., Salerno, W., Krasheninina, O., Smith, A., et al. (2023) · doi:10.21203/rs.3.rs-2515453/v1 · Cited by 24 · see citing works
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Yang, Y., Sun, W., Liu, Y., Zhang, J., & Li, M. (2026) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2524289123 · Cited by 3 · see citing works
Claps, A., Kolomenski, J. E., Fernández, F., Macchiaroli, N., Ingravidi, M. L., Delea, M., Fernández, C., Castro, T., Laiseca, J., Kamenetzky, L., et al. (2025) · Scientific Reports · doi:10.1038/s41598-025-03799-7 · Cited by 3 · see citing works
- Authors
- Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., Ledbetter, D. H., Maglott, D. R., Martin, C. L., Nussbaum, R. L., Plon, S. E., Ramos, E. M., Sherry, S. T., & Watson, M. S.
- Affiliations
- University of North Carolina at Chapel Hill (US)
- Stanford Medicine (US)
- National Institutes of Health (US)
- Geisinger Health System (US)
- University of California, San Francisco (US)
- Baylor College of Medicine (US)
- American College of Medical Genetics (US)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2015-06-04
- Volume
- 372
- Issue
- 23
- Pages
- 2235-2242
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC4474187
- OpenAlex
- W1644197353
- Cited by
- 1,496
- References
- 26
- Citations by year
- 2026: 158 · 2025: 194 · 2024: 163 · 2023: 130 · 2022: 175 · 2021: 133 · 2020: 110 · 2019: 91 · 2018: 116 · 2017: 86 · 2016: 92 · 2015: 43 · 2013: 1
- FWCI
- 76.65
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- public-domain
- Locations
- New England Journal of Medicine (publishedVersion, public-domain)
- PubMed (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (publishedVersion, other-oa)
- PubMed Central (acceptedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion, public-domain)
- Radboud Repository (Radboud University) (submittedVersion, public-domain)
- eScholarship (California Digital Library) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Funders
- Brigham and Women's Hospital
- National Institutes of Health (Z99 LM999999, #HHSN261200800001E, HHSN261200800001C)
- School of Medicine, Stanford University
- University of North Carolina at Chapel Hill
- University of California, San Francisco
- National Human Genome Research Institute (U41HG009650, U41HG006834, U01HG007436, U01HG007437)
- National Cancer Institute (HHSN261200800001E))
- National Institute of Environmental Health Sciences (P30ES013508)
- National Institute of Child Health and Human Development
- U.S. National Library of Medicine (T15LM007124)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HHSN261200800001E)
- School of Medicine, University of California, San Francisco
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- ClinGen, variant interpretation, hypertrophic cardiomyopathy, sudden cardiac death, variant reclassification, genetic testing, family screening, genotype-phenotype correlation
- MeSH terms
- Genetic Testing, Humans, National Library of Medicine (U.S.), United States, Genetic Variation, Genome, Human, Genetic Predisposition to Disease, Genetic Diseases, Inborn, Databases, Genetic
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