ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9867G>A (p.Gly3289=) (rs190537182)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036808 SCV000060463 benign not specified 2012-02-09 criteria provided, single submitter clinical testing A=32/G=3030 (1% AA chr; NHLBI/ESP)
GeneDx RCV000036808 SCV000171427 benign not specified 2012-05-08 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.
Invitae RCV000231362 SCV000285755 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000231362 SCV000356393 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349085 SCV000356394 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768784 SCV000900154 benign Cardiomyopathy 2017-10-03 criteria provided, single submitter clinical testing
Color RCV000768784 SCV001357596 benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing

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