ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.385-17del

gnomAD frequency: 0.00003  dbSNP: rs771168005
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003053377 SCV002413946 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-09-14 criteria provided, single submitter clinical testing

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