ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.1456A>G (p.Ile486Val)

dbSNP: rs886044139
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000289741 SCV000343594 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000289741 SCV004025296 uncertain significance not provided 2023-02-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005031870 SCV005671242 uncertain significance Cornelia de Lange syndrome 1 2023-12-21 criteria provided, single submitter clinical testing

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.