Submissions for variant NM_024422.6(DSC2):c.2616C>T (p.Cys872=)

gnomAD frequency: 0.00194  dbSNP: rs61731920

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039427	SCV000063111	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Cys872Cys in Exon 16 of DSC2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 0.6% (21/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs61731920).
Eurofins Ntd Llc (ga)	RCV000039427	SCV000335084	likely benign	not specified	2015-09-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000039427	SCV000512863	benign	not specified	2015-06-29	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.
Invitae	RCV000467067	SCV000561710	benign	Arrhythmogenic right ventricular dysplasia 11	2024-01-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771843	SCV000904557	benign	Cardiomyopathy	2018-10-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000467067	SCV001285658	benign	Arrhythmogenic right ventricular dysplasia 11	2018-12-19	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000039427	SCV001432021	benign	not specified	2020-08-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001795012	SCV002563455	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	DSC2: BP4, BP7
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000771843	SCV004240493	benign	Cardiomyopathy	2023-01-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000467067	SCV000733771	likely benign	Arrhythmogenic right ventricular dysplasia 11		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039427	SCV001922790	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039427	SCV001960146	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001795012	SCV002034233	likely benign	not provided		no assertion criteria provided	clinical testing