ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1023_1038dup (p.Thr347fs)

dbSNP: rs1576745270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788787 SCV000928029 likely pathogenic not provided 2018-10-31 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory, SA Pathology RCV001541946 SCV001760581 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4_Supporting, PM2

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