NM_006790.3(MYOT):c.634-14_634-10del AND Myofibrillar myopathy 3
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002059250.6
Allele description [Variation Report for NM_006790.3(MYOT):c.634-14_634-10del]
NM_006790.3(MYOT):c.634-14_634-10del
Condition(s)
- Name:
- Myofibrillar myopathy 3 (MFM3)
- Synonyms:
- Limb-girdle muscular dystrophy, type 1A; Muscular dystrophy, proximal, type 1A; Spheroid body myopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012215; MedGen: C3714934; Orphanet: 266; Orphanet: 268129; OMIM: 609200
Assertion and evidence details
Last Updated: Sep 29, 2024