ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) (rs1800076)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000513754 SCV000602979 likely benign not provided 2017-05-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513754 SCV000609754 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000582582 SCV000692319 uncertain significance Lung disease, non-specific 2015-05-14 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116686 SCV000110853 likely benign not specified 2017-08-16 criteria provided, single submitter clinical testing
GeneReviews RCV000119039 SCV000153745 pathogenic Hereditary pancreatitis 2014-03-13 no assertion criteria provided literature only
Genetic Services Laboratory, University of Chicago RCV000116686 SCV000150650 likely benign not specified 2016-06-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029494 SCV000466502 likely benign Cystic fibrosis 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029494 SCV000052145 benign Cystic fibrosis 2014-02-22 no assertion criteria provided clinical testing
Invitae RCV000029494 SCV000562313 benign Cystic fibrosis 2017-08-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000116686 SCV000204215 benign not specified 2014-02-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116686 SCV000304479 likely benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000116686 SCV000601071 uncertain significance not specified 2017-04-07 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.