Submissions for variant NM_004415.4(DSP):c.4914C>T (p.Asp1638=)

gnomAD frequency: 0.00006  dbSNP: rs750113099

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001178943	SCV001343509	likely benign	Cardiomyopathy	2019-04-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002068231	SCV002399279	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-12-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348608	SCV002646161	likely benign	Cardiovascular phenotype	2019-08-27	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	RCV002483972	SCV002797468	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	2021-10-13	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004006515	SCV004817876	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	2023-12-18	criteria provided, single submitter	clinical testing