ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.89G>A (p.Arg30Gln)

gnomAD frequency: 0.00200  dbSNP: rs148626062
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194724 SCV000249328 uncertain significance not specified 2014-12-11 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000420680 SCV000510658 uncertain significance not provided 2016-09-13 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000420680 SCV001056163 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000420680 SCV004153375 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing TUBGCP6: BP4, BS2

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.