ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4044G>A (p.Lys1348=) (rs755391572)

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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 RCV000617753 SCV000737824 likely benign Cardiovascular phenotype 2016-12-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000777776 SCV000913747 benign Cardiomyopathy 2018-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000605932 SCV000729740 likely benign not specified 2017-11-01 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 RCV000308159 SCV000356273 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362879 SCV000356274 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000362879 SCV000637560 likely benign Catecholaminergic polymorphic ventricular tachycardia 2018-01-04 criteria provided, single submitter clinical testing

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