ClinVar Miner

Submissions for variant NM_001372123.1(IKZF5):c.418T>C (p.Cys140Arg)

dbSNP: rs2133379859
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV002245462 SCV001451914 pathogenic Thrombocytopenia 7 2020-12-23 no assertion criteria provided literature only
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245462 SCV002515731 pathogenic Thrombocytopenia 7 no assertion criteria provided research

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