ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3092G>C (p.Gly1031Ala)

gnomAD frequency: 0.00455  dbSNP: rs115728769
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000887302 SCV001030852 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000887302 SCV001817511 likely benign not provided 2019-10-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000887302 SCV005891528 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing TUBGCP6: BP4, BS1

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.