ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.975+30A>C

gnomAD frequency: 0.22429  dbSNP: rs35925547
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 RCV000253862 SCV000307840 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527600 SCV001738710 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001689829 SCV001912871 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689829 SCV005306102 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.