NM_001127453.2(GSDME):c.1253A>G (p.His418Arg) AND Autosomal dominant nonsyndromic hearing loss 5
- Germline classification:
- Uncertain significance (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:
- RCV000291443.5
Allele description [Variation Report for NM_001127453.2(GSDME):c.1253A>G (p.His418Arg)]
NM_001127453.2(GSDME):c.1253A>G (p.His418Arg)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023