ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.2513A>G (p.Lys838Arg)

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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 RCV002468768 SCV002764841 likely pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 2021-05-03 criteria provided, single submitter clinical testing

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