NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly) AND not provided
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Nov 21, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000119717.1
Allele description
NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly)
Condition(s)
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Dec 18, 2021