ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4710A>G (p.Leu1570=)

gnomAD frequency: 0.00001  dbSNP: rs1401322778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176641 SCV001340678 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769882 SCV004674653 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-06-02 criteria provided, single submitter clinical testing

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