NM_001035.3(RYR2):c.2922T>C (p.Ser974=) AND Cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 20, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001178163.10
Allele description [Variation Report for NM_001035.3(RYR2):c.2922T>C (p.Ser974=)]
NM_001035.3(RYR2):c.2922T>C (p.Ser974=)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Assertion and evidence details
Last Updated: Apr 20, 2024