ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) (rs3766871)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000036771 SCV000050832 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036771 SCV000060426 benign not specified 2011-11-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036771 SCV000111253 benign not specified 2013-07-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000036771 SCV000306064 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000249038 SCV000317771 benign Cardiovascular phenotype 2015-03-11 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV001093882 SCV000356323 likely benign Catecholaminergic polymorphic ventricular tachycardia type 1 2017-04-27 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000265774 SCV000356324 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000378992 SCV000554555 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000036771 SCV000740441 benign not specified 2016-07-20 criteria provided, single submitter clinical testing
Color RCV000030426 SCV000902590 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000036771 SCV001158943 benign not specified 2018-10-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030426 SCV000053095 benign Cardiomyopathy 2013-03-01 no assertion criteria provided clinical testing

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