ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2454G>C (p.Gly818=)

gnomAD frequency: 0.00001  dbSNP: rs769137517
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773956 SCV000907656 likely benign Cardiomyopathy 2018-09-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004802431 SCV005426654 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-03-05 criteria provided, single submitter clinical testing

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