NM_000540.3(RYR1):c.1923C>G (p.Thr641=) AND Multiminicore myopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000277838.5
Allele description [Variation Report for NM_000540.3(RYR1):c.1923C>G (p.Thr641=)]
NM_000540.3(RYR1):c.1923C>G (p.Thr641=)
Condition(s)
- Name:
- Multiminicore myopathy
- Identifiers:
- MONDO: MONDO:0018948; MedGen: C0270962
Assertion and evidence details
Last Updated: Apr 20, 2024