NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr) AND Nonsyndromic Hearing Loss, Mixed
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000279194.1
Allele description
NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr)
Condition(s)
- Name:
- Nonsyndromic Hearing Loss, Mixed
- Identifiers:
- MedGen: CN239440
Assertion and evidence details
Last Updated: Apr 18, 2020