ClinVar
NCBI’s public archive of human genetic variants and their clinical significance. The central repository for variant-disease relationships.
What It Does
- Archives variant classifications from clinical labs and research groups
- Classification levels: Pathogenic, Likely Pathogenic, VUS, Likely Benign, Benign
- Submission history shows how classification evolved over time
- Links to supporting evidence, conditions, and submitters
How to Use
Web
- Go to https://www.ncbi.nlm.nih.gov/clinvar/
- Search by gene (STRC), variant (c.4976A>C), or condition
- Review star rating (0-4 stars = review confidence)
API (E-utilities)
# Search for STRC variants
curl "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi?db=clinvar&term=STRC[gene]&retmax=100&retmode=json"
# Get specific variant
curl "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=clinvar&id=VARIANT_ID&rettype=vcv&retmode=xml"Python (Biopython)
from Bio import Entrez
Entrez.email = "[email protected]"
handle = Entrez.esearch(db="clinvar", term="STRC[gene]")
results = Entrez.read(handle)
print(f"STRC variants in ClinVar: {results['Count']}")Verified Status
VERIFIED — STRC E1659A (c.4976A>C) checked: NOT in ClinVar as of 2026-04. This supports PM2 (absent from databases).
STRC Research Usage
- STRC Variant c.4976A>C — Misha — confirmed absent (PM2 evidence)
- STRC E1659A Conservation and Reclassification — checked for prior classifications
- Used to survey known pathogenic STRC variants for comparison
Results (April 2026)
- 427 STRC variants in ClinVar as of April 2026
- E1659A (c.4976A>C) remains ABSENT — not submitted by any lab
- Still untapped: set up alerts for new submissions, submit our VUS-high classification, track reclassification trends
Connections
- gnomAD [see-also] — population frequency data
- Franklin [see-also] — AI-powered classification
- VarSome [see-also] — aggregates ClinVar + more
- STRC Variant c.4976A>C — Misha [used-in]
- STRC E1659A Conservation and Reclassification [used-in]