ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1289G>A (p.Arg430His)

gnomAD frequency: 0.00020  dbSNP: rs139731261
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
Ambry Genetics RCV000210732 SCV000262988 uncertain significance Inborn genetic diseases 2013-11-21 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp RCV000872510 SCV001014329 benign Intellectual disability, CASK-related, X-linked 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001618347 SCV001844268 benign not provided 2019-03-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32799327)
PreventionGenetics, part of Exact Sciences RCV004541304 SCV004763478 likely benign CASK-related disorder 2023-09-25 no assertion criteria provided 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.