ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs)

dbSNP: rs2150146622
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001842247 SCV002102425 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2022-02-03 criteria provided, single submitter clinical testing Criteria applied: PVS1, PM2_SUP

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