NM_004415.4(DSP):c.1883del (p.Gly628fs) AND Arrhythmogenic right ventricular dysplasia 8
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 10, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000468365.2
Allele description [Variation Report for NM_004415.4(DSP):c.1883del (p.Gly628fs)]
NM_004415.4(DSP):c.1883del (p.Gly628fs)
Condition(s)
- Name:
- Arrhythmogenic right ventricular dysplasia 8 (ARVD8)
- Synonyms:
- ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
- Identifiers:
- MONDO: MONDO:0011831; MedGen: C1843896; OMIM: 607450
Assertion and evidence details
Last Updated: Feb 28, 2024