ClinVar Miner

Variants studied for Nager syndrome

Coded as:
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 total
24 0 1 0 0 25

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic uncertain significance total
SF3B4 24 1 25

Submitter and significance breakdown #

Total submitters: 5
Download table as spreadsheet
Submitter pathogenic uncertain significance total
Clinical Genetics Research Group, University of Calgary 18 0 18
OMIM 5 0 5
Genetic Services Laboratory, University of Chicago 4 0 4
Illumina Clinical Services Laboratory,Illumina 0 1 1
Genomic Medicine Lab, University of California San Francisco 1 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.