NM_000540.3(RYR1):c.5540C>A (p.Thr1847Asn) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002538763.3
Allele description [Variation Report for NM_000540.3(RYR1):c.5540C>A (p.Thr1847Asn)]
NM_000540.3(RYR1):c.5540C>A (p.Thr1847Asn)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
Assertion and evidence details
Last Updated: Sep 29, 2024