ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2433C>T (p.His811=)

gnomAD frequency: 0.00011  dbSNP: rs371990384
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
GeneDx RCV001704446 SCV000530205 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000438704 SCV000593852 likely benign not specified 2016-12-02 criteria provided, single submitter clinical testing
Invitae RCV000546336 SCV000647909 benign Intellectual disability, CASK-related, X-linked 2023-11-27 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.