ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.2346_2361del (p.Gly783fs)

dbSNP: rs2139753299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001542096 SCV001759957 pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 2022-05-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV002254725 SCV002526134 pathogenic See cases 2022-05-04 criteria provided, single submitter clinical testing ACMG categories: PVS1,PS2,PS4
GeneDx RCV004774456 SCV005383957 likely pathogenic not provided 2023-12-22 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 112 amino acids are replaced with 23 different amino acids, and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36275064)

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