Submissions for variant NM_001035.3(RYR2):c.2204-7C>G

gnomAD frequency: 0.00944  dbSNP: rs147479514

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036713	SCV000060368	benign	not specified	2012-04-03	criteria provided, single submitter	clinical testing	2204-7C>G in intron 20 of RYR2: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence and ha s been identified in 1.2% (78/6636) of European American chromosomes and 3/3058 African American chromosomes from a broad, though clinically unspecified populat ion (dbSNP rs147479514, NHLBI Exome Sequencing Project; http://evs.gs.washington .edu/EVS). 2204-7C>G in intron 20 of RYR2 (rs147479514, NHLBI Exome Seq Project ; 1.2%,78/6636)
Invitae	RCV001093855	SCV000261985	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000265261	SCV000356241	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV001093855	SCV000356242	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000030417	SCV000901200	likely benign	Cardiomyopathy	2017-07-17	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000030417	SCV000902671	benign	Cardiomyopathy	2018-03-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528684	SCV001159089	benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001528684	SCV001844936	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528684	SCV002496999	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	RYR2: BP4, BS1, BS2
Ambry Genetics	RCV002426527	SCV002727516	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: 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030417	SCV000053086	benign	Cardiomyopathy	2013-02-15	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528684	SCV001740843	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001528684	SCV001799581	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036713	SCV001921165	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000036713	SCV001932610	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036713	SCV001953916	benign	not specified		no assertion criteria provided	clinical testing