ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.940-7G>A (rs727504972)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000340912 SCV000407175 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156385 SCV000206103 uncertain significance not specified 2014-02-21 criteria provided, single submitter clinical testing The c.940-7G>A variant in CCDC40 has not been previously reported in individuals with pulmonary disease. Data from large population studies is insufficient to a ssess the frequency of this variant. This variant is located in the 3' splice re gion. Computational tools strongly suggest an impact to splicing; however, this information is not predictive enough to determine pathogenicity. In summary, add itional studies are needed to fully assess its clinical significance.

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.