ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8149T>C (p.Leu2717=)

gnomAD frequency: 0.00001  dbSNP: rs1296293752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002538995 SCV001009316 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-03-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185652 SCV001351904 likely benign Cardiomyopathy 2019-08-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004803285 SCV005427955 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-05-09 criteria provided, single submitter clinical testing

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