ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) (rs1576745260)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987323 SCV001136589 likely pathogenic Lymphedema, primary, with myelodysplasia 2019-05-28 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory,SA Pathology RCV001542202 SCV001760870 pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS2, PS4_Supporting, PM1, PM2, PM5, PP3

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