ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1052A>G (p.Asn351Ser)

dbSNP: rs1576745252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000984819 SCV001132701 uncertain significance not provided 2016-04-12 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory, SA Pathology RCV001542204 SCV001760872 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, PP3

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