ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.3022-48C>T

gnomAD frequency: 0.18249  dbSNP: rs72849388
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
PreventionGenetics, part of Exact Sciences RCV000243835 SCV000313096 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554838 SCV001776151 benign Primary ciliary dyskinesia 15 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001660338 SCV001880937 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001660338 SCV005255776 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.