ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2317C>T (p.His773Tyr)

gnomAD frequency: 0.00001  dbSNP: rs398123811
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
Eurofins Ntd Llc (ga) RCV000080348 SCV000112244 uncertain significance not provided 2013-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854417 SCV002267373 benign Intellectual disability, CASK-related, X-linked 2023-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000080348 SCV002559421 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.