ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9368-12C>T

gnomAD frequency: 0.00010  dbSNP: rs559526695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697790 SCV000524431 likely benign not provided 2021-01-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187365 SCV001354139 likely benign Cardiomyopathy 2019-06-19 criteria provided, single submitter clinical testing
Invitae RCV002521651 SCV002387928 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-13 criteria provided, single submitter clinical testing

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