ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
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 RCV001079668 SCV000457274 benign Cornelia de Lange syndrome 1 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.
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 RCV001079668 SCV000657485 benign Cornelia de Lange syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716733 SCV000847576 benign History of neurodevelopmental disorder 2016-04-08 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.