NM_213599.3(ANO5):c.1548C>T (p.Leu516=) AND Limb-Girdle Muscular Dystrophy, Recessive
- 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:
- RCV000344249.5
Allele description [Variation Report for NM_213599.3(ANO5):c.1548C>T (p.Leu516=)]
NM_213599.3(ANO5):c.1548C>T (p.Leu516=)
Condition(s)
- Name:
- Limb-Girdle Muscular Dystrophy, Recessive
- Identifiers:
- MedGen: CN239352
Assertion and evidence details
Last Updated: Mar 5, 2024