ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12375C>G (p.Val4125=)

dbSNP: rs1434635546
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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 RCV001187067 SCV001353726 likely benign Cardiomyopathy 2019-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560902 SCV002411961 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-08-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008662 SCV004818062 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-06-26 criteria provided, single submitter clinical testing

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