ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4242G>A (p.Arg1414=)

dbSNP: rs371748225
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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 RCV001189188 SCV001356428 likely benign Cardiomyopathy 2019-03-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004803536 SCV005426721 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005093976 SCV005830024 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-01 criteria provided, single submitter clinical testing

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