ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12168G>A (p.Lys4056=)

gnomAD frequency: 0.00001  dbSNP: rs1573932788
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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 RCV001183208 SCV001348873 likely benign Cardiomyopathy 2019-06-22 criteria provided, single submitter clinical testing
Invitae RCV002539078 SCV001675549 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-04-12 criteria provided, single submitter clinical testing

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