NM_001005242.3(PKP2):c.213C>T (p.Ser71=) AND Arrhythmogenic right ventricular cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003999144.2
Allele description [Variation Report for NM_001005242.3(PKP2):c.213C>T (p.Ser71=)]
NM_001005242.3(PKP2):c.213C>T (p.Ser71=)
Condition(s)
- Name:
- Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Synonyms:
- Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
- Identifiers:
- MONDO: MONDO:0016587; MeSH: D019571; MedGen: C0349788
Assertion and evidence details
Last Updated: Sep 29, 2024