ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.799G>T (p.Gly267Cys)

dbSNP: rs1577017863
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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 RCV000995660 SCV001149954 pathogenic Intellectual disability, autosomal dominant 41 2018-05-15 criteria provided, single submitter clinical testing

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