Submissions for variant NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln)

dbSNP: rs61731921

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000039421	SCV000051523	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039421	SCV000063105	benign	not specified	2010-05-03	criteria provided, single submitter	clinical testing	Classified as benign due to high allele frequency reported in literature (Posch et al. 2008; 7.2%)
PreventionGenetics, part of Exact Sciences	RCV000039421	SCV000314302	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246266	SCV000317421	benign	Cardiovascular phenotype	2015-06-21	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	RCV000460762	SCV000408094	benign	Arrhythmogenic right ventricular dysplasia 11	2018-03-06	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.
Invitae	RCV000460762	SCV000561692	benign	Arrhythmogenic right ventricular dysplasia 11	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000460762	SCV000743489	benign	Arrhythmogenic right ventricular dysplasia 11	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000460762	SCV000744755	benign	Arrhythmogenic right ventricular dysplasia 11	2015-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776014	SCV000910557	benign	Cardiomyopathy	2018-03-19	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000039421	SCV001433062	benign	not specified	2020-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001682710	SCV001900273	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996117	SCV004816053	benign	Familial isolated arrhythmogenic right ventricular dysplasia	2024-02-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029664	SCV000052316	benign	Arrhythmogenic right ventricular cardiomyopathy	2011-11-18	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000460762	SCV000733772	benign	Arrhythmogenic right ventricular dysplasia 11		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039421	SCV001921036	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039421	SCV001955420	benign	not specified		no assertion criteria provided	clinical testing