ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1082G>T (p.Arg361Leu) (rs387906634)

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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 RCV001542238 SCV001760906 pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS2, PS3, PS4_Supporting, PM1, PM2, PM5, PP3
OMIM RCV000022573 SCV000043862 pathogenic Lymphedema, primary, with myelodysplasia 2011-09-04 no assertion criteria provided literature only

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