ClinVar Miner

Submissions for variant NM_014927.5(CNKSR2):c.573_576del (p.Ser192fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV004776326 SCV005387606 pathogenic Intellectual disability, X-linked, syndromic, Houge type 2024-08-24 criteria provided, single submitter clinical testing

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