ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1504del (p.Glu502fs)

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004787547 SCV005402462 pathogenic X-linked intellectual disability, Cantagrel type 2024-11-21 criteria provided, single submitter clinical testing

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