ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8714+13A>G

gnomAD frequency: 0.00001  dbSNP: rs876657579
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Total submissions: 2
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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 RCV000216163 SCV000270819 likely benign not specified 2015-10-01 criteria provided, single submitter clinical testing c.8714+13A>G in intron 59 of RYR2: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence.
Invitae RCV003525881 SCV004311304 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-09 criteria provided, single submitter clinical testing

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