NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) AND Myosin storage myopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 19, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003320058.8
Allele description [Variation Report for NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)]
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
Condition(s)
- Name:
- Myosin storage myopathy (CMYO7A)
- Synonyms:
- MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT; Scapuloperoneal myopathy, MYH7-related; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008409; MedGen: C1842160; Orphanet: 437572; OMIM: 608358
Assertion and evidence details
Last Updated: Sep 16, 2024