ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr) (rs267608261)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000119833 SCV000154759 pathogenic Immunodeficiency 23 2014-05-01 no assertion criteria provided literature only
Centre of Chronic Immunodeficiency, Freiburg University RCV000144536 SCV000189848 pathogenic Hyper-IgE syndrome no assertion criteria provided not provided Converted during submission to Pathogenic.

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