ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1065_1067del (p.Thr358del) (rs1576745225)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Pathology Research Laboratory,SA Pathology RCV001542228 SCV001760896 pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS3, PS4_Moderate, PM2, PM4
OMIM RCV000022574 SCV000043863 risk factor Myelodysplastic syndrome 2011-09-04 no assertion criteria provided literature only

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