NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile) AND Arrhythmogenic right ventricular cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004008671.1
Allele description [Variation Report for NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile)]
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile)
Condition(s)
- Name:
- Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Synonyms:
- Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
- Identifiers:
- MONDO: MONDO:0016587; MedGen: C0349788
Assertion and evidence details
Last Updated: May 1, 2024