ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.849-12del

gnomAD frequency: 0.00001  dbSNP: rs765156667
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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 RCV001525905 SCV001736111 likely benign Cardiomyopathy 2024-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568829 SCV003517247 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-09-30 criteria provided, single submitter clinical testing

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