ClinVar Miner

Submissions for variant NM_017414.4(USP18):c.1073+1G>A

dbSNP: rs1602534094
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 RCV001000098 SCV001156518 pathogenic Pseudo-TORCH syndrome 2 2020-02-05 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001000098 SCV001469271 likely pathogenic Pseudo-TORCH syndrome 2 2020-08-07 no assertion criteria provided 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.