ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.524G>A (p.Cys175Tyr)

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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 RCV002468805 SCV002764927 likely pathogenic Intellectual disability, autosomal dominant 41 2022-08-01 criteria provided, single submitter clinical testing

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