ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1420C>G (p.Arg474Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002288157 SCV002578746 uncertain significance not provided 2022-04-08 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV003989764 SCV004808307 likely pathogenic Koolen-de Vries syndrome 2022-11-15 no assertion criteria provided clinical testing

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