Submissions for variant NM_024422.6(DSC2):c.111A>G (p.Leu37=)

gnomAD frequency: 0.10312  dbSNP: rs12954874

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039403	SCV000063087	benign	not specified	2011-06-08	criteria provided, single submitter	clinical testing	This variant is considered to be benign because it does not change an amino acid and is frequent in the general population (rs12954874; MAF>1%)
GeneDx	RCV000039403	SCV000168229	benign	not specified	2013-03-20	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.
PreventionGenetics, part of Exact Sciences	RCV000039403	SCV000314298	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000253441	SCV000317775	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: 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.
Illumina Laboratory Services, Illumina	RCV000614345	SCV000408107	benign	Arrhythmogenic right ventricular dysplasia 11	2018-01-13	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000614345	SCV000743501	benign	Arrhythmogenic right ventricular dysplasia 11	2014-10-10	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000614345	SCV000744773	benign	Arrhythmogenic right ventricular dysplasia 11	2015-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000775999	SCV000910530	benign	Cardiomyopathy	2018-03-16	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845337	SCV000987383	benign	not provided		criteria provided, single submitter	clinical testing
Invitae	RCV000614345	SCV001729150	benign	Arrhythmogenic right ventricular dysplasia 11	2024-02-01	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996432	SCV004819385	benign	Familial isolated arrhythmogenic right ventricular dysplasia	2024-02-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000614345	SCV000733783	benign	Arrhythmogenic right ventricular dysplasia 11		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039403	SCV001917809	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039403	SCV001956276	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000775999	SCV003802731	benign	Cardiomyopathy	2022-10-10	no assertion criteria provided	clinical testing