NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) AND Charcot-Marie-Tooth disease
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000789935.1
Allele description [Variation Report for NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)]
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)
Condition(s)
Assertion and evidence details
Last Updated: Aug 4, 2024