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ClinGen

VERIFIED

## Connections

variant-classification clinical guidelines

What It Does

  • Gene-disease validity curation (is STRC definitively linked to hearing loss?)
  • Variant classification standards (ACMG/AMP refinements)
  • Dosage sensitivity maps
  • Expert panels for specific genes/diseases
  • Sequence variant interpretation guidelines

How to Use

### Web

1. Go to https://clinicalgenome.org

2. Search: "STRC" → gene-disease validity

3. Check: Hearing Loss Expert Panel classifications

### Key Pages

  • Gene validity: https://search.clinicalgenome.org/kb/genes/HGNC:16044
  • Hearing Loss VCEP: https://clinicalgenome.org/affiliation/50009/

Verified Status

VERIFIED — STRC (HGNC:16044) has definitive gene-disease validity for DFNB16 hearing loss. Hearing Loss Expert Panel curations available. REST API accessible. URL: https://search.clinicalgenome.org/kb/genes/HGNC:16044

Verified Status

VERIFIED — STRC (HGNC:16044) has definitive gene-disease validity for DFNB16 hearing loss. Hearing Loss Expert Panel curations available. REST API accessible. URL: https://search.clinicalgenome.org/kb/genes/HGNC:16044