ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.708G>A (p.Leu236=)

gnomAD frequency: 0.00003  dbSNP: rs773746218
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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 RCV001805476 SCV002053027 likely benign Cardiomyopathy 2021-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542402 SCV002425337 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-10-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009138 SCV004845104 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-07-07 criteria provided, single submitter clinical testing

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