Submissions for variant NM_024422.6(DSC2):c.1264-5C>T

gnomAD frequency: 0.00292  dbSNP: rs183614856

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039405	SCV000063089	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	c.1264-5C>T in Intron 09 of DSC2: This variant is not expected to have clinical significance because it has been identified in 1.0% (38/3738) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS;).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232000	SCV000290727	benign	Arrhythmogenic right ventricular dysplasia 11	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250354	SCV000318384	benign	Cardiovascular phenotype	2015-06-25	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000232000	SCV000744763	benign	Arrhythmogenic right ventricular dysplasia 11	2017-06-28	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770539	SCV000901986	benign	Cardiomyopathy	2017-08-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000770539	SCV000904534	benign	Cardiomyopathy	2018-10-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001719758	SCV001948773	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001719758	SCV002050205	likely benign	not provided	2022-02-08	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996433	SCV004819139	benign	Familial isolated arrhythmogenic right ventricular dysplasia	2024-02-05	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039405	SCV001921993	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039405	SCV001951494	benign	not specified		no assertion criteria provided	clinical testing