ClinVar at five years: Delivering on the promise

Hum Mutat. 2018 Nov;39(11):1623-1630. doi: 10.1002/humu.23641.


The increasing application of genetic testing for determining the causes underlying Mendelian, pharmacogenetic, and somatic phenotypes has accelerated the discovery of novel variants by clinical genetics laboratories, resulting in a critical need for interpreting the significance of these variants and presenting considerable challenges. Launched in 2013 at the National Center for Biotechnology Information, National Institutes of Health, ClinVar is a public database for clinical laboratories, researchers, expert panels, and others to share their interpretations of variants with their evidence. The database holds 600,000 submitted records from 1,000 submitters, representing 430,000 unique variants. ClinVar encourages submissions of variants reviewed by expert panels, as expert consensus confers a high standard. Aggregating data from many groups in a single database allows comparison of interpretations, providing transparency into the concordance or discordance of interpretations. In its first five years, ClinVar has successfully provided a gateway for the submission of medically relevant variants and interpretations of their significance to disease. It has become an invaluable resource for the clinical genetics community seeking guidance from consensus interpretations. Building on the platform of providing transparency and leveraging aggregation of variant interpretations, ClinVar is now well positioned to help the clinical genetics community improve interpretations.

Keywords: ClinVar; bioinformatics; clinical genetics; database; genetic testing; medical genetics; variant interpretation.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Databases, Genetic
  • Genetic Testing / methods*
  • Genetic Variation / genetics*
  • Genome, Human / genetics*
  • Genomics
  • Humans