ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) (rs201081663)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000157463 SCV000207207 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-04-17 no assertion criteria provided clinical testing
GeneDx RCV000182641 SCV000235015 likely benign not specified 2016-04-06 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 RCV000234159 SCV000285756 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-12-28 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000182641 SCV000740450 likely benign not specified 2017-05-21 criteria provided, single submitter clinical testing

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