NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys) AND Congenital myopathy with fiber type disproportion
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001196418.2
Allele description [Variation Report for NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys)]
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024