ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.1500dup (p.Gly501fs)

dbSNP: rs1595215462
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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 RCV000995708 SCV001150028 pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 2019-02-14 criteria provided, single submitter clinical testing

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