ClinVar

VERIFIED

## Connections

variant-classification clinical ncbi

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

1. Go to https://www.ncbi.nlm.nih.gov/clinvar/

2. Search by gene (STRC), variant (c.4976A>C), or condition

3. 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 = "your@email.com"
        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

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