ClinVar Miner

Submissions for variant NM_018714.3(COG1):c.775G>T (p.Val259Leu)

gnomAD frequency: 0.00419  dbSNP: rs139304974
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224216 SCV000281125 likely benign not provided 2015-06-04 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001088408 SCV001014862 benign COG1 congenital disorder of glycosylation 2025-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000224216 SCV005211833 likely benign not provided criteria provided, single submitter not provided

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.