Submissions for variant NM_001943.5(DSG2):c.3225G>A (p.Thr1075=)

gnomAD frequency: 0.00002  dbSNP: rs773954315

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000427700	SCV000532568	likely benign	not specified	2016-10-21	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.
Ambry Genetics	RCV000617667	SCV000736207	likely benign	Cardiovascular phenotype	2016-01-11	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.
Color Diagnostics, LLC DBA Color Health	RCV001188437	SCV001355496	likely benign	Cardiomyopathy	2019-07-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001475439	SCV001679629	likely benign	Arrhythmogenic right ventricular dysplasia 10	2024-01-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000427700	SCV003845023	likely benign	not specified	2023-02-20	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004000527	SCV004819976	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000869939	SCV001739978	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000427700	SCV001919167	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000869939	SCV001974926	likely benign	not provided		no assertion criteria provided	clinical testing