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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003525881 SCV004311304 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-09 criteria provided, single submitter clinical testing

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