ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14055G>A (p.Lys4685=)

gnomAD frequency: 0.00001  dbSNP: rs765409439
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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 RCV001191601 SCV001359475 likely benign Cardiomyopathy 2018-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560124 SCV002338516 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-12-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010530 SCV004822228 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-05-08 criteria provided, single submitter clinical testing

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