ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10059C>A (p.Leu3353=)

gnomAD frequency: 0.00002  dbSNP: rs370015676
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179682 SCV000231971 uncertain significance not provided 2015-03-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185488 SCV001351711 likely benign Cardiomyopathy 2019-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516798 SCV001630509 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996584 SCV004815200 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-02-05 criteria provided, single submitter clinical testing

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