ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala)

gnomAD frequency: 0.00471  dbSNP: rs112524097
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 RCV001572759 SCV000524940 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Invitae RCV000966302 SCV001113605 benign 3-methylglutaconic aciduria, type VIIB 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001572759 SCV003916762 benign not provided 2023-10-01 criteria provided, single submitter clinical testing CLPB: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572759 SCV001797623 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001572759 SCV001932527 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.