ClinVar Miner

Submissions for variant NM_005013.2(NUCB2):c.-406C>G

gnomAD frequency: 0.62041  dbSNP: rs214088
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000114966 SCV000148857 uncertain significance not provided 2020-05-03 criteria provided, single submitter clinical testing
H3Africa Consortium RCV001777148 SCV002014652 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.71, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.

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.