ClinVar Miner

Submissions for variant NM_182972.3(IRF2BP2):c.1760C>T (p.Ser587Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759508 SCV005368090 uncertain significance Immune deficiency, familial variable 2024-06-07 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP3

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