NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter) AND Cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003486668.1
Allele description [Variation Report for NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter)]
NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Assertion and evidence details
Last Updated: May 7, 2024