ClinVar Miner

Submissions for variant NM_025009.5(CEP135):c.998AAG[2] (p.Glu335del)

dbSNP: rs374626758
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
Genetic Services Laboratory, University of Chicago RCV000195210 SCV000246968 uncertain significance not specified 2014-09-04 criteria provided, single submitter clinical testing
Invitae RCV000954091 SCV001100700 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000954091 SCV001894862 benign not provided 2019-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927773 SCV004740885 benign CEP135-related condition 2019-05-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.