NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) AND Muscular dystrophy, limb-girdle, autosomal dominant 4
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475891.2
Allele description [Variation Report for NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)]
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024