Submissions for variant NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro)

gnomAD frequency: 0.00652  dbSNP: rs34417028

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000037291	SCV000051375	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037291	SCV000060948	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Ser883Pro in exon 15 of DGS2: This variant is not expected to have clinical sign ificance because it has been identified in 1.9% (57/3044) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/; dbSNP rs34417028)
GeneDx	RCV000037291	SCV000168247	benign	not specified	2013-10-10	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	RCV001084577	SCV000561398	benign	Arrhythmogenic right ventricular dysplasia 10	2024-01-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000029669	SCV000911059	benign	Cardiomyopathy	2018-06-04	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845405	SCV000987470	benign	not provided		criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852743	SCV000995460	benign	Restrictive cardiomyopathy; Cardiomyopathy	2018-08-13	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490412	SCV002799267	benign	Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB	2021-12-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000029669	SCV004240505	benign	Cardiomyopathy	2023-01-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000845405	SCV004564815	benign	not provided	2023-10-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029669	SCV000052321	benign	Cardiomyopathy	2014-05-12	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037291	SCV001928659	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037291	SCV001953787	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037291	SCV001974631	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037291	SCV001979005	benign	not specified		no assertion criteria provided	clinical testing