ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6793-17_6793-16dup

gnomAD frequency: 0.00001  dbSNP: rs761591314
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483535 SCV000569075 likely benign not specified 2015-12-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002526569 SCV002416805 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-14 criteria provided, single submitter clinical testing

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