ClinVar: public archive of relationships among sequence variation and human phenotype
Open accessAbstract
ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) provides a freely available archive of reports of relationships among medically important variants and phenotypes. ClinVar accessions submissions reporting human variation, interpretations of the relationship of that variation to human health and the evidence supporting each interpretation. The database is tightly coupled with dbSNP and dbVar, which maintain information about the location of variation on human assemblies. ClinVar is also based on the phenotypic descriptions maintained in MedGen (http://www.ncbi.nlm.nih.gov/medgen). Each ClinVar record represents the submitter, the variation and the phenotype, i.e. the unit that is assigned an accession of the format SCV000000000.0. The submitter can update the submission at any time, in which case a new version is assigned. To facilitate evaluation of the medical importance of each variant, ClinVar aggregates submissions with the same variation/phenotype combination, adds value from other NCBI databases, assigns a distinct accession of the format RCV000000000.0 and reports if there are conflicting clinical interpretations. Data in ClinVar are available in multiple formats, including html, download as XML, VCF or tab-delimited subsets. Data from ClinVar are provided as annotation tracks on genomic RefSeqs and are used in tools such as Variation Reporter (http://www.ncbi.nlm.nih.gov/variation/tools/reporter), which reports what is known about variation based on user-supplied locations.
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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 [22]
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- Authors
- Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Maglott, Donna R.
- ORCID
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2013-11-14
- Volume
- 42
- Issue
- D1
- Pages
- D980-D985
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- PMC
- PMC3965032
- OpenAlex
- W2154866190
- Cited by
- 3,516
- References
- 15
- Citations by year
- 2026: 398 · 2025: 557 · 2024: 352 · 2023: 223 · 2022: 246 · 2021: 297 · 2020: 296 · 2019: 253 · 2018: 217 · 2017: 160 · 2016: 227 · 2015: 190 · 2014: 92 · 2013: 4 · 2012: 2
- FWCI
- 113.91
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- public-domain
- Locations
- Nucleic Acids Research (publishedVersion, public-domain)
- Europe PMC (PubMed Central) (publishedVersion, public-domain)
- PubMed Central (publishedVersion, public-domain)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- U.S. National Library of Medicine
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Biomedical Text Mining and Ontologies
- Keywords
- ClinVar, sequence variation, human phenotypes, clinical variant interpretation, dbSNP
- MeSH terms
- Humans, Phenotype, Genetic Variation, Genome, Human, Internet, Genomics, Databases, Genetic
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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