ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1131dup (p.Lys378Ter)

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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 RCV003885403 SCV004698059 pathogenic X-linked intellectual disability, Cantagrel type 2024-02-22 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_MOD,PM2_SUP

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