ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2396+12T>A

dbSNP: rs876657576
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Total submissions: 3
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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 RCV000214787 SCV000270810 likely benign not specified 2015-06-16 criteria provided, single submitter clinical testing c.2396+12T>A in intron 21 of RYR2: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence.
GeneDx RCV000214787 SCV000716662 likely benign not specified 2017-03-09 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 RCV002519616 SCV003273335 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-08-07 criteria provided, single submitter clinical testing

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