NM_001127453.2(GSDME):c.325G>A (p.Val109Ile) AND Autosomal dominant nonsyndromic hearing loss 5
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000367761.12
Allele description [Variation Report for NM_001127453.2(GSDME):c.325G>A (p.Val109Ile)]
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024