ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.4243-35del (rs193922527)

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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029540 SCV000052192 uncertain Hereditary pancreatitis 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506118 SCV000603011 benign not specified 2016-11-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283972 SCV001469504 likely benign not provided 2020-04-10 criteria provided, single submitter clinical testing
Invitae RCV001514615 SCV001722501 benign Cystic fibrosis 2020-12-05 criteria provided, single submitter 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.