ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12521T>C (p.Phe4174Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV005002083 SCV005627645 pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2024-11-28 criteria provided, single submitter clinical testing

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