ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9018-11T>C

gnomAD frequency: 0.00003  dbSNP: rs781149223
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191357 SCV001359150 likely benign Cardiomyopathy 2018-11-23 criteria provided, single submitter clinical testing
GeneDx RCV001709709 SCV001938322 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560974 SCV002398510 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-10-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010502 SCV004823288 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-12-13 criteria provided, single submitter clinical testing

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