ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9414T>C (p.Tyr3138=)

gnomAD frequency: 0.00001  dbSNP: rs770274059
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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 RCV001182111 SCV001347463 likely benign Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559011 SCV003446169 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-02-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004803484 SCV005428016 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-05-30 criteria provided, single submitter clinical testing

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