Submissions for variant NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)

gnomAD frequency: 0.01767  dbSNP: rs41315858

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000036770	SCV000050833	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036770	SCV000060425	benign	not specified	2012-05-10	criteria provided, single submitter	clinical testing	Allele frequency = 2.4% (n=160 alleles), EA cohort, NHLBI ESP.
Eurofins Ntd Llc (ga)	RCV000036770	SCV000229858	benign	not specified	2014-11-21	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000238788	SCV000296978	benign	Catecholaminergic polymorphic ventricular tachycardia	2015-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246866	SCV000317991	benign	Cardiovascular phenotype	2015-03-25	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV001093881	SCV000356321	benign	Arrhythmogenic right ventricular dysplasia 2	2017-05-11	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001093880	SCV000356322	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2017-05-11	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae	RCV001093880	SCV000554561	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776019	SCV000910582	benign	Cardiomyopathy	2018-03-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529658	SCV001159077	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000036770	SCV001433187	benign	not specified	2020-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001529658	SCV001866808	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30403697, 25925909, 28798025, 28404607, 27153395, 21315846, 19926015, 24025405, 24237251, 18326664)
CeGaT Center for Human Genetics Tuebingen	RCV001529658	SCV002544383	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	RYR2: BP4, BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030425	SCV000053094	benign	Arrhythmogenic right ventricular cardiomyopathy	2014-11-10	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529658	SCV001743477	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529658	SCV001797544	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036770	SCV001919421	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000036770	SCV001929316	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036770	SCV001955137	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036770	SCV001966537	benign	not specified		no assertion criteria provided	clinical testing