ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.2474dup (p.Cys826fs)

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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004776531 SCV005387897 likely pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 2024-04-19 criteria provided, single submitter clinical testing

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