ClinVar Miner

Submissions for variant NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter)

dbSNP: rs1603251001
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
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814249 SCV001755468 pathogenic Abnormality of prenatal development or birth 2021-07-10 criteria provided, single submitter clinical testing
OMIM RCV000993789 SCV001146961 pathogenic Autosomal recessive amelia 2020-08-04 no assertion criteria provided literature only
OMIM RCV000993790 SCV001146962 pathogenic Coxopodopatellar syndrome 2020-01-21 no assertion criteria provided literature only

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.