NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) AND Muscular dystrophy, limb-girdle, autosomal dominant 4
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003474972.2
Allele description [Variation Report for NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)]
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)
Condition(s)
Assertion and evidence details
Last Updated: Aug 4, 2024