ClinVar Miner

Submissions for variant NC_000005.10:g.13900401_13900430del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227117 SCV001399458 pathogenic Primary ciliary dyskinesia 2019-08-25 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 15 (c.2053-18_2064del) of the DNAH5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed in combination with another DNAH5 variant in an individual affected with primary ciliary dyskinesia (Invitae). Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.

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.