ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)

dbSNP: rs397508146
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
CFTR2 RCV000576945 SCV000924254 pathogenic Cystic fibrosis 2019-03-11 reviewed by expert panel research
Institute of Human Genetics, University of Leipzig Medical Center RCV000576945 SCV002573974 likely pathogenic Cystic fibrosis 2022-09-05 criteria provided, single submitter curation This variant was identified in 1 patient with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PM3_STR, PM2_SUP, PP3, PP4
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000576945 SCV000678878 not provided Cystic fibrosis no assertion provided literature only
Natera, Inc. RCV000576945 SCV001456060 pathogenic Cystic fibrosis 2020-09-16 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.