ClinVar Miner

Submissions for variant NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile)

gnomAD frequency: 0.00248  dbSNP: rs76659072
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192575 SCV000246977 uncertain significance not specified 2014-08-13 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000192575 SCV000332090 benign not specified 2015-06-15 criteria provided, single submitter clinical testing
Invitae RCV000898080 SCV001042266 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000898080 SCV001822258 likely benign not provided 2020-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955144 SCV004773160 likely benign CEP135-related condition 2019-03-07 criteria provided, single submitter clinical testing This variant is classified as likely 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.