ClinGen (Clinical Genome Resource)
NIH-funded resource defining the clinical relevance of genes and variants. Sets standards for variant classification and gene-disease curation.
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
- Go to https://clinicalgenome.org
- Search: “STRC” → gene-disease validity
- 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
Connections
- ClinVar [see-also] — ClinGen expert panels submit to ClinVar
- STRC E1659A Conservation and Reclassification [see-also]
- STRC Hearing Loss [see-also]