ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.915_916del (p.Trp306fs)

dbSNP: rs2107670467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Pathology Research Laboratory, SA Pathology RCV001542220 SCV001760888 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4_Moderate, PM2
Revvity Omics, Revvity RCV003136102 SCV003825794 pathogenic not provided 2021-12-07 criteria provided, single submitter clinical testing

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