ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.177C>G (p.Tyr59Ter)

dbSNP: rs146150325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311611 SCV001501859 pathogenic not provided 2020-10-01 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory, SA Pathology RCV001542132 SCV001760800 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4_Supporting, PM2

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