Submissions for variant NM_004415.4(DSP):c.4983C>T (p.Val1661=)

gnomAD frequency: 0.00001  dbSNP: rs755233649

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000620153	SCV000738232	likely benign	Cardiovascular phenotype	2017-11-20	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000872082	SCV001013842	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-09-12	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001180594	SCV001345553	likely benign	Cardiomyopathy	2018-11-08	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004002708	SCV004816021	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	2023-10-02	criteria provided, single submitter	clinical testing