ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8130-5C>T

gnomAD frequency: 0.00001  dbSNP: rs1683411935
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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 RCV001177709 SCV001341971 likely benign Cardiomyopathy 2018-11-13 criteria provided, single submitter clinical testing
Invitae RCV002558858 SCV002412064 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-06-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006401 SCV004837142 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-02-05 criteria provided, single submitter clinical testing

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