Submissions for variant NM_004415.4(DSP):c.6441C>T (p.Val2147=)

dbSNP: rs762513279

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000252137	SCV000319031	likely benign	Cardiovascular phenotype	2013-09-06	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.
Color Diagnostics, LLC DBA Color Health	RCV001182487	SCV001347949	likely benign	Cardiomyopathy	2019-11-24	criteria provided, single submitter	clinical testing
Invitae	RCV002058500	SCV002333595	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2023-04-20	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500945	SCV002807634	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	2021-10-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001182487	SCV003837785	likely benign	Cardiomyopathy	2021-11-01	criteria provided, single submitter	clinical testing