ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8209-12C>A

gnomAD frequency: 0.00003  dbSNP: rs767601681
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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 RCV001182850 SCV001348446 likely benign Cardiomyopathy 2019-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559813 SCV002368970 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-04-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008331 SCV004815156 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-11-20 criteria provided, single submitter clinical testing

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