ClinVar Miner

Submissions for variant NM_205768.3(ZBTB18):c.1423C>G (p.His475Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV003335808 SCV004045886 likely pathogenic Intellectual disability, autosomal dominant 22 2023-09-19 criteria provided, single submitter clinical testing

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