ClinVar Miner

Submissions for variant NM_004341.5(CAD):c.4810C>T (p.Gln1604Ter)

dbSNP: rs1676113645
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001254807 SCV001430905 likely pathogenic not provided 2020-07-23 criteria provided, single submitter clinical testing PVS1, PM2
Fulgent Genetics, Fulgent Genetics RCV005029846 SCV005655938 likely pathogenic Developmental and epileptic encephalopathy, 50 2024-03-28 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.