ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1706G>A (p.Arg569Gln)

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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004555124 SCV005044041 pathogenic Pitt-Hopkins syndrome 2024-01-30 criteria provided, single submitter clinical testing PS2, PM2, PM5, PP2, PP3

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.