ClinVar Miner

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

gnomAD frequency: 0.00034  dbSNP: 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, Mass General Brigham 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002513424 SCV000554575 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-27 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 Diagnostics, LLC DBA Color Health RCV001192359 SCV001360410 benign Cardiomyopathy 2019-10-22 criteria provided, single submitter clinical testing

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