NM_000257.4(MYH7):c.5560-2A>C AND MYH7-related skeletal myopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000681617.2
Allele description [Variation Report for NM_000257.4(MYH7):c.5560-2A>C]
NM_000257.4(MYH7):c.5560-2A>C
Condition(s)
- Name:
- MYH7-related skeletal myopathy
- Synonyms:
- MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY; Myopathy, distal, 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008050; MedGen: C4552004; Orphanet: 59135; OMIM: 160500
Assertion and evidence details
Last Updated: Jul 29, 2023