ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) (rs140100861)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000146529 SCV000114522 likely benign not specified 2012-08-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146529 SCV000193823 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356681 SCV000457274 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513958 SCV000610826 likely benign not provided 2017-07-31 criteria provided, single submitter clinical testing
Invitae RCV000547679 SCV000657485 benign Cornelia de Lange syndrome 1 2016-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716733 SCV000847576 benign History of neurodevelopmental disorder 2016-04-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification

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