ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1084C>T (p.Arg362Ter) (rs1553770510)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504503 SCV000594917 pathogenic Leukemia, acute myeloid, susceptibility to 2015-09-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000984822 SCV001132704 likely pathogenic not provided 2016-04-12 criteria provided, single submitter clinical testing
Mendelics RCV000987321 SCV001136587 likely pathogenic Lymphedema, primary, with myelodysplasia 2019-05-28 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000984822 SCV001447529 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory,SA Pathology RCV001542118 SCV001760786 pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4, PM2

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