ClinVar Miner

Submissions for variant NM_138459.5(NUS1):c.328C>T (p.Gln110Ter)

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Total submissions: 1
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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 RCV003128001 SCV003804068 pathogenic Intellectual disability, autosomal dominant 55, with seizures 2022-06-27 criteria provided, single submitter clinical testing

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