NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) AND Congenital multicore myopathy with external ophthalmoplegia
- 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:
- RCV001122358.4
Allele description [Variation Report for NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)]
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)
Condition(s)
- Name:
- Congenital multicore myopathy with external ophthalmoplegia (CMYO1B)
- Synonyms:
- MULTICORE MYOPATHY; Minicore myopathy with external ophthalmoplegia; Multicore myopathy with external ophthalmoplegia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009712; MedGen: C1850674; Orphanet: 598; OMIM: 255320; Human Phenotype Ontology: HP:0003789
Assertion and evidence details
Last Updated: Oct 20, 2024