ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) (rs373261115)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777782 SCV000913757 benign Cardiomyopathy 2018-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000182870 SCV000235258 likely benign not specified 2016-12-07 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 RCV000359359 SCV000356277 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264660 SCV000356278 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000264660 SCV000637561 likely benign Catecholaminergic polymorphic ventricular tachycardia 2018-01-15 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000415707 SCV000493799 uncertain significance Arrhythmogenic right ventricular dysplasia, familial, 2 2016-01-27 criteria provided, single submitter clinical testing

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