ClinVar Miner

Submissions for variant NM_005188.3(CBL):c.2269G>A (p.Ala757Thr) (rs146517083)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514779 SCV000057272 likely benign not provided 2018-05-21 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 RCV000120463 SCV000197243 benign not specified 2015-10-08 criteria provided, single submitter clinical testing p.Ala757Thr in exon 15 of CBL: This variant is not expected to have clinical sig nificance it has been identified in 0.5% (81/16512) of South Asian chromosomes ( including 1 homozygous individual) and 0.1% (62/66732) of European chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs146517083).
PreventionGenetics,PreventionGenetics RCV000120463 SCV000310873 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348818 SCV000367778 likely benign Noonan-Like Syndrome Disorder 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469757 SCV000555938 benign Rasopathy 2017-12-11 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514779 SCV000611031 likely benign not provided 2017-05-11 criteria provided, single submitter clinical testing
ITMI RCV000120463 SCV000084616 not provided not specified 2013-09-19 no assertion provided reference population

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