ClinVar Miner

Submissions for variant NM_001035.2(RYR2):c.7542G>A (p.Leu2514=) (rs371088367)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252731 SCV000320557 likely benign Cardiovascular phenotype 2015-12-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000777732 SCV000913689 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000182635 SCV000235008 benign not specified 2014-07-02 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 RCV000343987 SCV000356351 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392708 SCV000356352 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000392708 SCV000554594 benign Catecholaminergic polymorphic ventricular tachycardia 2017-10-03 criteria provided, single submitter clinical testing

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