ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) (rs387906629)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502442 SCV000594916 pathogenic Leukemia, acute myeloid, susceptibility to 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000022559 SCV000043848 pathogenic Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2011-09-08 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000445214 SCV000504646 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only

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