NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter) AND Hearing loss, autosomal dominant 37
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003985698.1
Allele description [Variation Report for NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)]
NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)
Condition(s)
Assertion and evidence details
Last Updated: Mar 30, 2024