ClinVar Miner

Submissions for variant NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127343 SCV003803909 pathogenic Autism spectrum disorder criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003135286 SCV003812054 uncertain significance Intellectual disability, autosomal recessive 65 2022-01-06 criteria provided, single submitter clinical testing

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