ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8209-13G>C

gnomAD frequency: 0.00005  dbSNP: rs759582222
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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 RCV001177013 SCV001341118 benign Cardiomyopathy 2020-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559713 SCV003505040 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-10-04 criteria provided, single submitter clinical testing

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