ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9902-14C>T

gnomAD frequency: 0.00001  dbSNP: rs1190539351
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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 RCV001177777 SCV001342043 likely benign Cardiomyopathy 2019-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769912 SCV004613413 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-03-02 criteria provided, single submitter clinical testing

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