ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.897-?_2184+?del

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
Invitae RCV000199420 SCV000253875 pathogenic Microcephaly, normal intelligence and immunodeficiency 2016-04-24 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exons 8-14 of the NBN gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss of function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). For these reasons, this variant has been classified as Pathogenic.

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.