ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.121C>G (p.Pro41Ala) (rs143590990)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084371 SCV000291132 likely benign Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000504452 SCV000594920 likely benign not specified 2019-06-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000227295 SCV001132715 uncertain significance not provided 2014-04-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001146587 SCV001307337 uncertain significance Lymphedema, primary, with myelodysplasia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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