NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) AND Charcot-Marie-Tooth disease
- Germline classification:
- Pathogenic (2 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000789221.3
Allele description [Variation Report for NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)]
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024