ClinVar Miner

Submissions for variant NM_006280.3(SSR4):c.317del (p.Phe106fs)

dbSNP: rs606231298
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
OMIM RCV000191048 SCV000192494 pathogenic SSR4-congenital disorder of glycosylation 2014-03-15 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000191048 SCV000246125 pathogenic SSR4-congenital disorder of glycosylation 2013-11-14 no assertion criteria provided research

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.