ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1082G>A (p.Arg361His)

dbSNP: rs387906634
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Pathology Research Laboratory, SA Pathology RCV001542116 SCV001760784 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS4, PM1, PM2, PM5, PP3

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