ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.2827C>T (p.Arg943Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003992068 SCV004811956 uncertain significance Intellectual developmental disorder with autism and macrocephaly 2023-09-07 criteria provided, single submitter clinical testing ACMG Criteria: PP3_STR,BS2, PM2_SUP
GeneDx RCV004780695 SCV005392507 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 38002998)

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