NM_000540.3(RYR1):c.7842C>T (p.Ile2614=) 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:
- RCV000265194.5
Allele description [Variation Report for NM_000540.3(RYR1):c.7842C>T (p.Ile2614=)]
NM_000540.3(RYR1):c.7842C>T (p.Ile2614=)
Condition(s)
- Name:
- Neuromuscular disease, congenital, with uniform type 1 fiber
- Identifiers:
- MedGen: C2674259
Assertion and evidence details
Last Updated: Jul 29, 2024