ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) (rs1576744529)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000984829 SCV001132712 pathogenic not provided 2014-04-09 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory,SA Pathology RCV001541952 SCV001760587 pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS4, PM1, PM2, PM5, PP3
GeneDx RCV000984829 SCV001780704 likely pathogenic not provided 2020-05-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31732620, 29724903, 22147895, 27876779, 27924436, 21670465, 23728141)

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