ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1339A>C (p.Ser447Arg) (rs1576744275)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000984834 SCV001132718 uncertain significance not provided 2014-04-09 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory,SA Pathology RCV001541962 SCV001760597 pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS1, PS4, PM2, PP1_Moderate, PP3

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