Submissions for variant NM_004415.4(DSP):c.4749C>T (p.Thr1583=)

gnomAD frequency: 0.00007  dbSNP: rs745348231

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001183060	SCV001348715	likely benign	Cardiomyopathy	2019-03-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001415305	SCV001617463	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-08-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002334115	SCV002639416	likely benign	Cardiovascular phenotype	2019-09-16	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.
Clinical Genetics, Academic Medical Center	RCV001796154	SCV002034412	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000641840	SCV002037506	likely benign	not provided		no assertion criteria provided	clinical testing