ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3461dup (p.Cys1155fs)

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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 RCV004759527 SCV005368141 pathogenic X-linked intellectual disability, Cantagrel type 2024-06-26 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2

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