ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12990G>T (p.Leu4330=)

dbSNP: rs1558407591
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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 RCV001189232 SCV001356486 likely benign Cardiomyopathy 2018-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559163 SCV003272927 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-02-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010347 SCV004818750 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-09-17 criteria provided, single submitter clinical testing

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