ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7736C>T (p.Ala2579Val)

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
GeneDx RCV005227265 SCV005870410 uncertain significance not provided 2024-08-15 criteria provided, single submitter clinical testing Identified in a patient with features consistent with non-classic CdlS, but it is unknown whether this individual was screened for variants in other genes associated with CdlS (PMID: 34717699); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34717699)

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.