ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5523dup (p.His1842fs)

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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 RCV004759642 SCV005368425 pathogenic Neurofibromatosis, type 1 2024-09-04 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP,PP4

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