ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.312_313dup (p.Leu105fs)

dbSNP: rs1576749168
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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 RCV001542142 SCV001760810 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4, PM2
OMIM RCV000022569 SCV000043858 pathogenic Deafness-lymphedema-leukemia syndrome 2011-09-04 no assertion criteria provided literature only

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