ClinVar Miner

Submissions for variant NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV002465470 SCV002760165 likely pathogenic Intellectual disability, X-linked, syndromic, Houge type 2022-11-29 criteria provided, single submitter research
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002465470 SCV003932266 pathogenic Intellectual disability, X-linked, syndromic, Houge type 2023-01-03 criteria provided, single submitter clinical testing PVS1, PM2, PM6, PS4_supporting

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