NM_005572.3(LMNA):c.-210T>C AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001096151.13
Allele description [Variation Report for NM_005572.3(LMNA):c.-210T>C]
NM_005572.3(LMNA):c.-210T>C
Condition(s)
- Name:
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
- Synonyms:
- MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT; SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY; Benign scapuloperoneal muscular dystrophy with cardiomyopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0021569; MedGen: C0410190; Orphanet: 261; Orphanet: 264; OMIM: 181350
Assertion and evidence details
Last Updated: Jun 9, 2024