NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro) AND Autosomal dominant nonsyndromic hearing loss 5
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001160131.4
Allele description [Variation Report for NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)]
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)
Condition(s)
Assertion and evidence details
Last Updated: May 12, 2024