ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12678G>T (p.Pro4226=)

dbSNP: rs768348987
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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 RCV000774084 SCV000907784 likely benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536671 SCV002414017 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-10-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001348 SCV004818583 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-04-28 criteria provided, single submitter clinical testing

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