ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.49-10C>T

gnomAD frequency: 0.00001  dbSNP: rs760891474
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002544595 SCV001089142 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191073 SCV001358746 likely benign Cardiomyopathy 2020-01-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004325 SCV004833548 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-04-28 criteria provided, single submitter clinical testing

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