ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.-39C>T

gnomAD frequency: 0.00063  dbSNP: rs72646950
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423971 SCV000517076 likely benign not specified 2016-07-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000860848 SCV001001013 benign DiGeorge syndrome 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702464 SCV004152111 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TBX1: BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702464 SCV001928953 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702464 SCV001956781 likely benign not provided no assertion criteria provided 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.