NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) AND Congenital myopathy with fiber type disproportion
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 18, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001196458.3
Allele description [Variation Report for NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)]
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)
Condition(s)
Assertion and evidence details
Last Updated: Oct 26, 2024