Submissions for variant NM_001943.5(DSG2):c.3291T>C (p.Asn1097=)

gnomAD frequency: 0.00002  dbSNP: rs757473850

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000439043	SCV000527749	likely benign	not specified	2016-05-13	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	RCV000864990	SCV001005884	likely benign	Arrhythmogenic right ventricular dysplasia 10	2023-11-13	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001184547	SCV001350556	likely benign	Cardiomyopathy	2019-06-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000439043	SCV002074280	likely benign	not specified	2022-01-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446703	SCV002611679	likely benign	Cardiovascular phenotype	2019-10-20	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.
All of Us Research Program, National Institutes of Health	RCV004000448	SCV004819981	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing