ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.736T>C (p.Tyr246His)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333524 SCV004041174 uncertain significance DiGeorge syndrome 2023-07-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333523 SCV004041342 uncertain significance Tetralogy of Fallot 2023-07-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333525 SCV004041366 uncertain significance Velocardiofacial syndrome 2023-07-17 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.