ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.464-12G>A

gnomAD frequency: 0.00004  dbSNP: rs766779504
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721382 SCV000532114 likely benign not provided 2019-12-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179857 SCV001344646 likely benign Cardiomyopathy 2019-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002522524 SCV003249347 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000518 SCV004817443 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-12-13 criteria provided, single submitter clinical testing

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