ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.12168G>C (p.Leu4056=)

gnomAD frequency: 0.00004  dbSNP: rs767740137
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
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278096 SCV002566194 uncertain significance Ehlers-Danlos syndrome 2019-04-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426376 SCV004156221 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing TNXB: BP4, BP7

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.