ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7290A>G (p.Gly2430=)

gnomAD frequency: 0.00001  dbSNP: rs765196007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772702 SCV000905961 likely benign Cardiomyopathy 2018-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536635 SCV001012753 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-10-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999978 SCV004822035 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-08-15 criteria provided, single submitter clinical testing

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