NM_001005242.3(PKP2):c.1379-1_1556+1del AND Cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001799313.2
Allele description [Variation Report for NM_001005242.3(PKP2):c.1379-1_1556+1del]
NM_001005242.3(PKP2):c.1379-1_1556+1del
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Assertion and evidence details
Last Updated: Dec 24, 2023