Submissions for variant NM_004415.4(DSP):c.1557C>T (p.Ala519=)

gnomAD frequency: 0.00003  dbSNP: rs769629611

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000438257	SCV000520226	likely benign	not specified	2015-10-23	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000897834	SCV001042003	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-10-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001187370	SCV001354144	likely benign	Cardiomyopathy	2019-09-09	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000438257	SCV001433318	benign	not specified	2019-11-15	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996065	SCV004829054	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	2023-12-13	criteria provided, single submitter	clinical testing