ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.2616_2617del (p.Met873fs)

dbSNP: rs2139752497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570134 SCV001794355 likely pathogenic not provided 2019-08-13 criteria provided, single submitter clinical testing Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 22 amino acids are lost and replaced with 10 incorrect amino acids (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Molecular Genetics laboratory, Necker Hospital RCV001570134 SCV004031292 likely pathogenic not provided 2022-04-26 no assertion criteria provided clinical testing

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