Submissions for variant NM_004415.4(DSP):c.1443G>A (p.Glu481=)

gnomAD frequency: 0.00004  dbSNP: rs149126992

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000937383	SCV001083168	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-10-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001191069	SCV001358740	likely benign	Cardiomyopathy	2020-02-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390971	SCV002699374	likely benign	Cardiovascular phenotype	2021-06-25	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002502870	SCV002805175	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	2021-08-23	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004003290	SCV004828869	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	2023-12-01	criteria provided, single submitter	clinical testing