NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) AND RYR1-related myopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004586876.1
Allele description [Variation Report for NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg)]
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg)
Condition(s)
- Name:
- RYR1-related myopathy
- Identifiers:
- MONDO: MONDO:0100150; MedGen: CN305348
Assertion and evidence details
Last Updated: Jul 29, 2024