Submissions for variant NM_001943.5(DSG2):c.861C>T (p.Asn287=)

gnomAD frequency: 0.50779  dbSNP: rs2230233

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037317	SCV000060974	benign	not specified	2007-11-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000037317	SCV000308562	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244966	SCV000317610	benign	Cardiovascular phenotype	2015-03-09	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina	RCV000391845	SCV000408218	benign	Arrhythmogenic right ventricular dysplasia 10	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color Diagnostics, LLC DBA Color Health	RCV000771041	SCV000902542	benign	Cardiomyopathy	2018-04-08	criteria provided, single submitter	clinical testing
Invitae	RCV000391845	SCV001729152	benign	Arrhythmogenic right ventricular dysplasia 10	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001668159	SCV001882232	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000037317	SCV001740253	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037317	SCV001924776	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037317	SCV001931837	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037317	SCV001959676	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037317	SCV001964605	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000771041	SCV003802737	benign	Cardiomyopathy	2022-09-23	no assertion criteria provided	clinical testing