ClinVar Miner

Submissions for variant NM_014927.5(CNKSR2):c.187C>T (p.Gln63Ter)

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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 RCV004723655 SCV005328366 pathogenic Intellectual disability, X-linked, syndromic, Houge type 2024-09-25 criteria provided, single submitter clinical testing

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