NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 8, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001799070.10
Allele description [Variation Report for NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp)]
NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Assertion and evidence details
Last Updated: Jul 29, 2024