ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.937G>A (p.Asp313Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002287863 SCV002578137 likely pathogenic Pierpont syndrome; Intellectual disability, autosomal dominant 41 2022-09-27 criteria provided, single submitter clinical testing

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