ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8831-9A>C (rs187977513)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725128 SCV000334309 uncertain significance not provided 2015-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000338645 SCV000514448 benign not specified 2015-11-17 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 RCV001084041 SCV000554600 likely benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626732 SCV000747435 uncertain significance Abnormal heart morphology; Sinus bradycardia; Ventricular hypertrophy; Prolonged QTc interval; Left ventricular noncompaction cardiomyopathy; Abnormality of the trabecular meshwork 2017-01-01 criteria provided, single submitter clinical testing
Color RCV000771267 SCV000903387 likely benign Cardiomyopathy 2018-09-04 criteria provided, single submitter clinical testing

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