ClinVar Miner

Submissions for variant NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)

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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 RCV003128038 SCV003804116 likely pathogenic Autism spectrum disorder 2022-08-08 criteria provided, single submitter clinical testing

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