ClinVar Miner

Submissions for variant NM_001145661.1(GATA2):c.-200_871+527del2032

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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 RCV001541965 SCV001760600 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4_Moderate, PM2
OMIM RCV000022564 SCV000043853 pathogenic Monocytopenia with susceptibility to infections 2011-09-08 no assertion criteria provided literature only

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