ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.981G>A (p.Gly327=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001394459 SCV001596144 likely benign Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2019-09-27 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory,SA Pathology RCV001541970 SCV001760605 uncertain significance Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS4_Supporting, PM2, BP4, BP7

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