NM_000540.3(RYR1):c.13583C>T (p.Pro4528Leu) AND RYR1-Related Disorders
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001040687.6
Allele description [Variation Report for NM_000540.3(RYR1):c.13583C>T (p.Pro4528Leu)]
NM_000540.3(RYR1):c.13583C>T (p.Pro4528Leu)
Condition(s)
- Name:
- RYR1-Related Disorders
- Identifiers:
- MedGen: CN239331
Assertion and evidence details
Last Updated: Feb 20, 2024