ClinVar Miner

Submissions for variant NM_005444.3(CNOT9):c.874C>T (p.Arg292Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003155474 SCV002574757 pathogenic not provided 2022-09-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV002293266 SCV002575060 pathogenic Neurodevelopmental delay 2022-09-27 criteria provided, single submitter research PS2_VSTR, PM2_SUP, PP2
Institute of Human Genetics, University of Leipzig Medical Center RCV002286439 SCV002576393 pathogenic CNOT9-associated neurodevelopmental disorder 2022-09-28 criteria provided, single submitter clinical testing PS2_VSTR, PM2_SUP, PP2

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