NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys) AND Muscular dystrophy, limb-girdle, autosomal dominant 4
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003459596.2
Allele description [Variation Report for NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)]
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024