ClinVar Miner

Submissions for variant NM_001286615.2(ANO4):c.2174T>C (p.Ile725Thr)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics, University of Zurich RCV003993695 SCV004812191 likely pathogenic Temporal lobe epilepsy 2024-03-26 no assertion criteria provided research based on the results of functional testing and known reduced penetrance we consider this variant as likely pathogenic

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.