ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.857C>T (p.Ala286Val) (rs797045592)

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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 RCV000193630 SCV000247453 likely pathogenic Leukemia, acute myeloid, susceptibility to 2014-11-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000984851 SCV001132741 uncertain significance not provided 2016-01-05 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory,SA Pathology RCV001542217 SCV001760885 likely pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS3, PS4_Supporting, PM2, PP3

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