Submissions for variant NM_004415.4(DSP):c.8511T>C (p.Ser2837=)

gnomAD frequency: 0.00001  dbSNP: rs757475874

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001718913	SCV000721137	likely benign	not provided	2019-08-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001182034	SCV001347356	likely benign	Cardiomyopathy	2019-04-20	criteria provided, single submitter	clinical testing
Invitae	RCV001461231	SCV001665121	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-01-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506466	SCV002801882	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	2021-07-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003160094	SCV003855678	likely benign	Cardiovascular phenotype	2022-12-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.