NM_000166.6(GJB1):c.548G>A (p.Arg183His) 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:
- RCV000789837.2
Allele description [Variation Report for NM_000166.6(GJB1):c.548G>A (p.Arg183His)]
NM_000166.6(GJB1):c.548G>A (p.Arg183His)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024