ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9021A>G (p.Leu3007=)

gnomAD frequency: 0.00001  dbSNP: rs748115355
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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 RCV002529943 SCV000760702 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-09-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191632 SCV001359523 likely benign Cardiomyopathy 2019-06-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003879 SCV004819196 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-04-03 criteria provided, single submitter clinical testing

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