Submissions for variant NM_001035.3(RYR2):c.11963-11T>C

gnomAD frequency: 0.35417  dbSNP: rs790889

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036668	SCV000060323	benign	not specified	2012-04-10	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000036668	SCV000233208	benign	not specified	2014-09-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000036668	SCV000306028	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000362948	SCV000356443	benign	Arrhythmogenic right ventricular dysplasia 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000273051	SCV000356444	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color Diagnostics, LLC DBA Color Health	RCV000771039	SCV000902540	benign	Cardiomyopathy	2018-03-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001650861	SCV001861750	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000362948	SCV002033035	benign	Arrhythmogenic right ventricular dysplasia 2	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001841567	SCV002033036	benign	Cardiac arrhythmia	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000273051	SCV002033037	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2021-11-07	criteria provided, single submitter	clinical testing
Invitae	RCV000273051	SCV002487789	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-02-01	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036668	SCV001926042	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036668	SCV001954915	benign	not specified		no assertion criteria provided	clinical testing