Submissions for variant NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)

gnomAD frequency: 0.00737  dbSNP: rs72549415

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000036730	SCV000050834	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036730	SCV000060385	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Ala1136Val in exon 28 of RYR2: This variant is not expected to have clinical sig nificance because it has been identified in 1.2% (83/6844 chromosomes) of Europe an American chromosomes from a broad population by the NHBLI exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs72549415).
Eurofins Ntd Llc (ga)	RCV000036730	SCV000228608	benign	not specified	2015-01-09	criteria provided, single submitter	clinical testing
Invitae	RCV001098855	SCV000262200	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000242051	SCV000317990	benign	Cardiovascular phenotype	2015-07-09	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000442890	SCV000511837	likely benign	not provided	2017-01-12	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768758	SCV000900128	likely benign	Cardiomyopathy	2017-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000768758	SCV000902698	benign	Cardiomyopathy	2018-03-16	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000768758	SCV000995299	benign	Cardiomyopathy	2017-12-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001098855	SCV001255249	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2018-02-09	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	RCV001100666	SCV001257195	likely benign	Arrhythmogenic right ventricular dysplasia 2	2018-02-09	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000036730	SCV001433189	benign	not specified	2020-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000442890	SCV001477599	benign	not provided	2023-11-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000442890	SCV001912639	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24237251, 24025405, 21315846, 19926015, 19597050, 25569433, 27153395, 26332594, 28404607, 25925909, 30403697)
CeGaT Center for Human Genetics Tuebingen	RCV000442890	SCV002585195	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	RYR2: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000442890	SCV001741770	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000442890	SCV001799359	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036730	SCV001918202	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000442890	SCV001929293	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036730	SCV001957531	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036730	SCV001970241	benign	not specified		no assertion criteria provided	clinical testing