ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2784G>A (p.Glu928=)

gnomAD frequency: 0.00001  dbSNP: rs1183256756
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525753 SCV001735938 likely benign Cardiomyopathy 2020-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568106 SCV002361740 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008871 SCV004815347 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-10-02 criteria provided, single submitter clinical testing

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