ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.445G>A (p.Gly149Arg)

dbSNP: rs397508718
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR-France RCV000577096 SCV001169300 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Molecular Genetics Lab, CHRU Brest RCV003883127 SCV004697618 pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577096 SCV000679466 not provided Cystic fibrosis no assertion provided literature only

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.