ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14826G>A (p.Lys4942=)

gnomAD frequency: 0.00001  dbSNP: rs1379152907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002038138 SCV002274017 likely benign Catecholaminergic polymorphic ventricular tachycardia 2021-05-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003533085 SCV004361582 likely benign Cardiomyopathy 2022-04-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002038138 SCV004820631 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-11-20 criteria provided, single submitter clinical testing

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