NM_001943.5(DSG2):c.1385del (p.Asn462fs) AND Arrhythmogenic right ventricular dysplasia 10
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Jun 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003322734.3
Allele description [Variation Report for NM_001943.5(DSG2):c.1385del (p.Asn462fs)]
NM_001943.5(DSG2):c.1385del (p.Asn462fs)
Condition(s)
- Name:
- Arrhythmogenic right ventricular dysplasia 10
- Synonyms:
- ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic right ventricular cardiomyopathy, type 10; Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012434; MedGen: C1857777; OMIM: 610193
Assertion and evidence details
Last Updated: Sep 29, 2024