ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.38-7A>G

gnomAD frequency: 0.00001  dbSNP: rs863224392
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000197294 SCV000253390 likely benign Microcephaly, normal intelligence and immunodeficiency 2024-04-22 criteria provided, single submitter clinical testing
GeneDx RCV001705149 SCV000529795 likely benign not provided 2019-11-26 criteria provided, single submitter clinical testing
Counsyl RCV000197294 SCV000792423 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2017-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000197294 SCV002045996 likely benign Microcephaly, normal intelligence and immunodeficiency 2021-11-07 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.