ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1692del (p.Asp565fs) (rs193922505)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000029485 SCV000245917 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507024 SCV000601058 pathogenic not provided 2016-12-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004267 SCV001163143 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000507024 SCV001714834 pathogenic not provided 2019-11-25 criteria provided, single submitter clinical testing PVS1, PM2, PP5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029485 SCV000052136 likely pathogenic Cystic fibrosis 2015-10-02 no assertion criteria provided clinical testing

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.