ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2614-12T>C

gnomAD frequency: 0.00001  dbSNP: rs928458049
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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 RCV001184586 SCV001350608 likely benign Cardiomyopathy 2018-11-13 criteria provided, single submitter clinical testing
GeneDx RCV001776131 SCV002012841 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559865 SCV002235858 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-10-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008467 SCV004820350 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-12-18 criteria provided, single submitter clinical testing

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