ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7222-12T>C

gnomAD frequency: 0.00006  dbSNP: rs540308433
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245774 SCV000306072 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001705340 SCV000516039 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771976 SCV000904930 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Invitae RCV002518599 SCV002383670 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-30 criteria provided, single submitter clinical testing

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