NM_033337.3(CAV3):c.417C>T (p.Val139=) AND Limb-Girdle Muscular Dystrophy, Dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000399401.6
Allele description [Variation Report for NM_033337.3(CAV3):c.417C>T (p.Val139=)]
NM_033337.3(CAV3):c.417C>T (p.Val139=)
Condition(s)
- Name:
- Limb-Girdle Muscular Dystrophy, Dominant
- Identifiers:
- MedGen: CN239426
Assertion and evidence details
Last Updated: May 26, 2024