ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.1901_1906dup (p.Gly634_Asp635dup)

dbSNP: rs760277241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203089 SCV000258240 benign not specified 2015-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528992 SCV004107368 uncertain significance BCL11B-related disorder 2023-04-04 criteria provided, single submitter clinical testing The BCL11B c.1688_1693dup6 variant is predicted to result in an in-frame duplication (p.Gly563_Asp564dup). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0030% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-99641266-T-TCGTCGC). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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