ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1210-17_1210-12del

dbSNP: rs3832534
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003231512 SCV000603038 benign not specified 2021-01-04 criteria provided, single submitter clinical testing
Invitae RCV001510196 SCV001717170 benign Cystic fibrosis 2021-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535638 SCV004756193 likely benign CFTR-related disorder 2023-09-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Ambry Genetics RCV001510196 SCV005035753 likely benign Cystic fibrosis 2024-01-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.