ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter) (rs866740147)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000770972 SCV000897956 pathogenic De Lange syndrome 2018-06-21 criteria provided, single submitter clinical testing This variant in the NIPBL gene was identified in a mosaic form (only in buccal swab, 20% of the reads) in a femal baby with Cornelia de Lange syndrome

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.