NM_000540.3(RYR1):c.14587T>G (p.Phe4863Val) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002028576.6
Allele description [Variation Report for NM_000540.3(RYR1):c.14587T>G (p.Phe4863Val)]
NM_000540.3(RYR1):c.14587T>G (p.Phe4863Val)
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