ClinVar Miner

Submissions for variant NM_004991.4(MECOM):c.627T>A (p.Tyr209Ter)

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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 RCV004759661 SCV005368475 pathogenic Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 2023-08-01 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2

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