ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.214T>C (p.Tyr72His) (rs4673)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Clinical Molecular Biology,Kiel University RCV000736011 SCV000864164 likely pathogenic Very early onset inflammatory bowel disease 2018-11-06 no assertion criteria provided research
OMIM RCV000002351 SCV000022509 benign CYBA POLYMORPHISM 2009-07-01 no assertion criteria provided literature only
PreventionGenetics RCV000249071 SCV000302283 benign not specified criteria provided, single submitter clinical testing

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