ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.2785G>A (p.Gly929Ser)

gnomAD frequency: 0.00264  dbSNP: rs59896146
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000226944 SCV000290405 benign Primary ciliary dyskinesia 2024-12-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000242485 SCV000313087 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000226944 SCV002746427 benign Primary ciliary dyskinesia 2017-02-06 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV004703497 SCV005214211 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.