ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile)

gnomAD frequency: 0.00014  dbSNP: rs189261750
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
Eurofins Ntd Llc (ga) RCV000593527 SCV000702656 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing
Invitae RCV000593527 SCV001409446 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000593527 SCV001790735 uncertain significance not provided 2020-12-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.