Submissions for variant NM_001035.3(RYR2):c.677-11T>A

gnomAD frequency: 0.53281  dbSNP: rs10754602

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036781	SCV000060436	benign	not specified	2011-09-16	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000036781	SCV000224868	benign	not specified	2014-09-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000036781	SCV000306068	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000300385	SCV000356193	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	RCV000357582	SCV000356194	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	RCV000775984	SCV000910505	benign	Cardiomyopathy	2018-03-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001682728	SCV001897363	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000300385	SCV002032986	benign	Arrhythmogenic right ventricular dysplasia 2	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001841575	SCV002032987	benign	Cardiac arrhythmia	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000357582	SCV002032988	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2021-11-07	criteria provided, single submitter	clinical testing
Invitae	RCV000357582	SCV002461048	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362625	SCV002661700	benign	Cardiovascular phenotype	2014-12-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.