ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11245+6G>A

gnomAD frequency: 0.00003  dbSNP: rs1366481570
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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 RCV001188759 SCV001355895 likely benign Cardiomyopathy 2019-04-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010307 SCV004827545 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-12-18 criteria provided, single submitter clinical testing

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