ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.463+6dup (rs397516534)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036750 SCV000060405 likely benign not specified 2012-04-18 criteria provided, single submitter clinical testing 463+6_463+7insC in intron 7 of RYR2: This variant is not expected to have clinic al significance because it is not located within the splice consensus sequence.
Invitae RCV000464361 SCV000554575 likely benign Catecholaminergic polymorphic ventricular tachycardia 2019-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000036750 SCV000565507 likely benign not specified 2016-10-11 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.
Color RCV001192359 SCV001360410 benign Cardiomyopathy 2019-10-22 criteria provided, single submitter clinical testing

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