ClinVar Miner

Submissions for variant NM_001372123.1(IKZF5):c.362A>T (p.Tyr121Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002281022 SCV002569348 likely pathogenic Thrombocytopenia 7 2023-06-30 criteria provided, single submitter clinical testing Functional data show impaired DNA binding

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