ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8757A>G (p.Lys2919=)

dbSNP: rs1685252629
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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 RCV001187003 SCV001353658 likely benign Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560899 SCV002493742 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-02-01 criteria provided, single submitter clinical testing

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