ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1054T>C (p.Cys352Arg)

dbSNP: rs797045591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194241 SCV000247451 likely pathogenic Leukemia, acute myeloid, susceptibility to 2015-05-09 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory, SA Pathology RCV001542205 SCV001760873 likely pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS4_Supporting, PM1, PM2, PM5, PP3

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