ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.3558C>T (p.Leu1186=)

gnomAD frequency: 0.00110  dbSNP: rs146736925
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192564 SCV000246928 uncertain significance not specified 2015-02-04 criteria provided, single submitter clinical testing
Invitae RCV000880850 SCV001023974 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927771 SCV004756133 likely benign CDK5RAP2-related disorder 2019-06-04 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.