ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.992G>T (p.Ser331Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224727 SCV003920403 uncertain significance Immunodeficiency 49; Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 2022-10-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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