ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1776A>T (p.Gly592=) (rs72549414)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254551 SCV000317875 benign Cardiovascular phenotype 2014-12-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000771072 SCV000902600 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036709 SCV000332969 benign not specified 2015-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000036709 SCV000171406 benign not specified 2011-07-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000346952 SCV000356231 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402551 SCV000356232 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000346952 SCV000554578 benign Catecholaminergic polymorphic ventricular tachycardia 2017-08-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036709 SCV000060364 benign not specified 2011-10-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000036709 SCV000306045 benign not specified criteria provided, single submitter clinical testing

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