ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.172-529G>A (rs104895039)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672224 SCV000797311 likely benign Microcephaly, normal intelligence and immunodeficiency 2018-01-22 criteria provided, single submitter clinical testing
Harris Lab, University of Minnesota RCV000114883 SCV000148778 not provided not provided no assertion provided not provided

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.