ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2145A>T (p.Gly715=)

dbSNP: rs764163453
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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 RCV001185099 SCV001351252 likely benign Cardiomyopathy 2018-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559889 SCV002304798 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004803507 SCV005426644 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-03-24 criteria provided, single submitter clinical testing

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