ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1084_1095del (p.Arg362_Asn365del) (rs869320734)

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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 RCV001542117 SCV001760785 likely pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS4_Supporting, PM2, PM4_Strong
OMIM RCV000022565 SCV000043854 pathogenic Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2011-09-08 no assertion criteria provided literature only

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