Submissions for variant NM_001943.5(DSG2):c.2997G>A (p.Ser999=)

gnomAD frequency: 0.00002  dbSNP: rs763888499

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000548345	SCV000641979	likely benign	Arrhythmogenic right ventricular dysplasia 10	2023-11-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001183482	SCV001349225	likely benign	Cardiomyopathy	2019-01-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002438387	SCV002746957	likely benign	Cardiovascular phenotype	2019-07-17	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.
CeGaT Center for Human Genetics Tuebingen	RCV003419957	SCV004140914	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	DSG2: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV003999236	SCV004821862	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2024-01-03	criteria provided, single submitter	clinical testing