ClinVar
About the resource
ClinVar is NCBI's public archive of submitted relationships between human variants and phenotypes. Clinical labs (Invitae, GeneDx, Ambry, the broad-institute clinical labs, hospital-based labs worldwide), expert panels (ClinGen Variant Curation Expert Panels), the Sherloc and ACMG-classification workflows, and individual researchers all submit interpretations. Each submission carries a review status (the 'stars' system), evidence summary and submitting lab.
ClinVar surfaces conflicts between submitters explicitly — the same variant may carry pathogenic, likely pathogenic and benign interpretations from different labs. This transparency is one of the reasons ClinVar has become the dominant public resource for clinical variant interpretation and is integrated into nearly every diagnostic and research pipeline. Weekly variant releases ship on FTP; the API is part of E-utilities.
What you'd use it for
- 01Look up the clinical significance and evidence behind a variant
- 02Identify submitter conflicts on a clinically-actionable variant
- 03Filter VCFs against ClinVar pathogenic/likely-pathogenic sets
- 04Pull ClinGen Variant Curation Expert Panel classifications
How you access it
Recent updates
- 12 May 2026Variant interpretations refreshed (weekly drop) — 8,420 new submissions, 312 reclassifications.