ClinVar Miner

Submissions for variant NM_005188.3(CBL):c.1150T>C (p.Cys384Arg) (rs387906664)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001561040 SCV001783561 pathogenic not provided 2020-05-13 criteria provided, single submitter clinical testing Published functional studies demonstrated p.C384R damages the capacity of the polyubiquitylation of pEGFR (Niemeyer et al., 2010); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22733026, 20694012, 20644105, 19571318, 23696637, 24803665, 20619386)
OMIM RCV000022698 SCV000043987 pathogenic Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 2010-09-01 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420743 SCV000505200 likely pathogenic Hematologic neoplasm 2014-12-26 no assertion criteria provided literature only

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