ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1219A>C (p.Arg407=)

dbSNP: rs1382123934
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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 RCV001191412 SCV001359233 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560110 SCV001671307 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-04-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010504 SCV004844344 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-08-15 criteria provided, single submitter clinical testing

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