ClinVar Miner

Submissions for variant NM_005188.3(CBL):c.869+4A>G (rs77284821)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224916 SCV000280906 benign not provided 2015-05-14 criteria provided, single submitter clinical testing
GeneDx RCV000049224 SCV000077238 benign Rasopathy 2012-05-04 criteria provided, single submitter clinical testing The variant is found in NOONAN panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000339761 SCV000367755 benign Noonan-Like Syndrome Disorder 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000049224 SCV000555937 benign Rasopathy 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038366 SCV000062038 benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.869+4A>G in Intron 05 of CBL: This variant is not expected to have clinical si gnificance because it has been identified in 6.8% (255/3736) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs77284821).
PreventionGenetics RCV000038366 SCV000310880 benign not specified criteria provided, single submitter clinical testing

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