ClinVar Miner

Variants studied for CFTR-related disorders

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
350 36 414 64 19 1 840

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CFTR 284 28 347 54 14 1 700
CFTR, LOC111674472 32 7 35 3 0 0 69
CFTR, LOC111674477 7 0 24 3 2 0 31
CFTR, LOC111674475 19 1 5 2 1 0 26
CFTR, LOC113664106 7 0 1 0 0 0 8
CFTR, LOC111674463 0 0 2 1 2 0 4
CFTR, LOC113633877 1 0 0 1 0 0 2

Submitter and significance breakdown #

Total submitters: 8
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 299 20 311 45 14 0 689
Illumina Laboratory Services, Illumina 0 0 105 20 7 0 132
Genome Diagnostics Laboratory, The Hospital for Sick Children 46 16 15 3 4 0 84
CFTR-France 42 0 0 0 0 0 42
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 5 2 0 0 8
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomics For Life 0 0 1 0 0 0 1

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.