NM_000540.3(RYR1):c.3299G>A (p.Arg1100His) AND Neuromuscular disease, congenital, with uniform type 1 fiber
- Germline classification:
- Uncertain significance (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:
- RCV000297339.5
Allele description [Variation Report for NM_000540.3(RYR1):c.3299G>A (p.Arg1100His)]
NM_000540.3(RYR1):c.3299G>A (p.Arg1100His)
Condition(s)
- Name:
- Neuromuscular disease, congenital, with uniform type 1 fiber
- Identifiers:
- MedGen: C2674259
Assertion and evidence details
Last Updated: Feb 14, 2024