ClinVar Miner

Submissions for variant NM_174916.3(UBR1):c.2273G>A (p.Gly758Glu)

dbSNP: rs1131691524
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
GeneDx RCV000494094 SCV000582301 likely pathogenic not provided 2021-03-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002063857 SCV002496397 uncertain significance Johanson-Blizzard syndrome 2022-01-01 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.