ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249071 SCV000302283 benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000989646 SCV001140177 benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000002351 SCV000022509 benign CYBA POLYMORPHISM 2009-07-01 no assertion criteria provided literature only
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

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