ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2973A>T (p.Ser991=)

dbSNP: rs2253273
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002553418 SCV001607299 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-08-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532976 SCV004360554 likely benign Cardiomyopathy 2022-07-11 criteria provided, single submitter clinical testing

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