NM_000166.6(GJB1):c.2T>C (p.Met1Thr) AND Charcot-Marie-Tooth Neuropathy X
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001388320.7
Allele description [Variation Report for NM_000166.6(GJB1):c.2T>C (p.Met1Thr)]
NM_000166.6(GJB1):c.2T>C (p.Met1Thr)
Condition(s)
- Name:
- Charcot-Marie-Tooth Neuropathy X
- Identifiers:
- MedGen: CN118851
Assertion and evidence details
Last Updated: Sep 29, 2024