ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) (rs3822471)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082482 SCV000114524 benign not specified 2014-01-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082482 SCV000193826 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082482 SCV000315678 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261926 SCV000457275 benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712413 SCV000842905 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715248 SCV000846076 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000086371 SCV000118517 benign Cornelia de Lange syndrome 1 no assertion criteria provided not provided Converted during submission to Benign.

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.