ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2190G>C (p.Thr730=) (rs143840974)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124142 SCV000167556 benign not specified 2013-11-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000124142 SCV000268830 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Thr730Thr in Exon 14 of CBL: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.3% (23/7020) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs143840974).
Invitae RCV000233667 SCV000288836 benign Rasopathy 2020-11-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000124142 SCV000310872 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391887 SCV000367776 benign Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genetic Services Laboratory, University of Chicago RCV000124142 SCV000593862 benign not specified 2016-10-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000124142 SCV001370669 benign not specified 2020-05-16 criteria provided, single submitter clinical testing

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