ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5037T>C (p.His1679=)

dbSNP: rs2148593927
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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 RCV001525175 SCV001735217 likely benign Cardiomyopathy 2020-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005057479 SCV005704101 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-02-03 criteria provided, single submitter clinical testing

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