Submissions for variant NM_001035.3(RYR2):c.8437-7dup

gnomAD frequency: 0.02544  dbSNP: rs148246251

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036798	SCV000060453	benign	not specified	2012-08-22	criteria provided, single submitter	clinical testing	This variant has been identified in 5.7% (28/490) of African and African America n chromosomes from a broad population by the 1000 Genomes project (dbSNP rs14824 6251).
Eurofins Ntd Llc (ga)	RCV000036798	SCV000111256	benign	not specified	2013-03-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000036798	SCV000235011	benign	not specified	2017-09-07	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	RCV000036798	SCV000306076	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000355740	SCV000356357	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405880	SCV000356358	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002513442	SCV000554586	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-02-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768774	SCV000900144	benign	Cardiomyopathy	2015-10-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000768774	SCV000903045	benign	Cardiomyopathy	2018-03-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528477	SCV002058082	benign	not provided	2023-09-28	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000355740	SCV004822683	benign	Catecholaminergic polymorphic ventricular tachycardia	2024-02-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528477	SCV001740290	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036798	SCV001923103	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000036798	SCV001932196	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036798	SCV001955602	benign	not specified		no assertion criteria provided	clinical testing