appears_in: []
contact:
  email: maglott@ncbi.nlm.nih.gov
  name: Donna R. Maglott
  orcid: 0000-0001-7451-4467
depends_on: []
deprecated: false
description: ClinVar archives reports of relationships among medically important variants
  and phenotypes. It records human variation, interpretations of the relationship
  specific variations to human health, and supporting evidence for each interpretation.
  Each ClinVar record (RCV identifier) represents an aggregated view of interpretations
  of the same variation and condition from one or more submitters. Submissions for
  individual variation/phenotype combinations (SCV identifier) are also collected
  and made available separately. This collection references the Variant identifier.
example: '12345'
example_extras: []
homepage: http://www.ncbi.nlm.nih.gov/clinvar/
keywords:
- biomedical science
- clinical studies
- genomics
- preclinical studies
mappings:
  biocontext: ClinVarVariant
  biolink: CLINVAR
  cellosaurus: ClinVar
  fairsharing: FAIRsharing.wx5r6f
  hl7: 2.16.840.1.113883.6.319
  integbio: nbdc01514
  miriam: clinvar
  n2t: clinvar
  re3data: r3d100013331
  togoid: Clinvar
  wikidata: P1929
name: ClinVar Variation
namespace_in_lui: false
pattern: ^\d+$
preferred_prefix: clinvar
prefix: clinvar
providers: []
publications:
- doi: 10.1093/nar/gkt1113
  pmc: PMC3965032
  pubmed: '24234437'
  title: 'ClinVar: public archive of relationships among sequence variation and human
    phenotype'
  year: 2013
synonyms:
- clinvar.variant
- clinvar.variation
uri_format: https://www.ncbi.nlm.nih.gov/clinvar/variation/$1
