ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1794C>T (p.Asn598=)

gnomAD frequency: 0.00072  dbSNP: rs143991107
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
Eurofins Ntd Llc (ga) RCV000080347 SCV000112243 likely benign not specified 2016-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000552953 SCV000647904 benign Intellectual disability, CASK-related, X-linked 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001610366 SCV001835467 benign not provided 2018-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408606 SCV002717239 benign Inborn genetic diseases 2017-06-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004542771 SCV004765579 likely benign CASK-related disorder 2024-02-23 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.