ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.761C>T (p.Pro254Leu) (rs387906630)

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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 RCV001541968 SCV001760603 uncertain significance Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS4_Supporting, PM2
OMIM RCV000022560 SCV000043849 pathogenic Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2011-09-08 no assertion criteria provided literature only

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