ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)

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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 RCV003128066 SCV003804150 likely pathogenic Autism spectrum disorder 2022-04-12 criteria provided, single submitter clinical testing

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