ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2620-15C>G (rs139379077)

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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029499 SCV000052150 uncertain Cystic fibrosis 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Invitae RCV000029499 SCV000284999 benign Cystic fibrosis 2020-12-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000244736 SCV000304483 likely benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000244736 SCV000601076 uncertain significance not specified 2017-01-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283282 SCV000603043 benign none provided 2020-02-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000244736 SCV000700535 benign not specified 2016-11-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759758 SCV000889295 benign not provided 2018-07-12 criteria provided, single submitter clinical testing
Mendelics RCV000029499 SCV001137483 likely benign Cystic fibrosis 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001158764 SCV001320419 uncertain significance CFTR-related disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Johns Hopkins Genomics, Johns Hopkins University RCV000029499 SCV001711953 benign Cystic fibrosis 2021-05-25 criteria provided, single submitter clinical testing
GeneDx RCV000759758 SCV001793092 likely benign not provided 2019-08-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19017867, 20100616, 16251901, 16128988, 27264265, 9521595, 24272871, 9272157, 29174009, 25900089, 29807875, 28408918, 26500004, 28040058, 28546993, 27884173, 10875853, 15070876)
Nilou-Genome Lab RCV000029499 SCV001822112 likely benign Cystic fibrosis 2021-07-22 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.