ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1680-870T>A (rs213965)

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
Invitae RCV000046408 SCV000074421 benign Cystic fibrosis 2014-12-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150338 SCV000197441 benign not specified 2014-02-06 criteria provided, single submitter clinical testing 1680-870T>A in intron 12 of CFTR: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. The A allele is the major allele but the frequency of the T allele is hig h enough to rule out a role in disease (A = 94.3%; 166/176 and T = 5.7% , 10/1 76 Yoruban chromosomes, 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/proje cts/SNP; dbSNP rs213965).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759029 SCV000888070 benign not provided 2018-04-09 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.