ClinVar Miner

Variants studied for Desbuquois dysplasia 1

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
17 3 90 26 26 161

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CANT1 15 3 70 12 17 116
XYLT1 1 0 13 8 6 28
LOC102723692, XYLT1 1 0 7 6 3 17

Submitter and significance breakdown #

Total submitters: 5
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 70 12 17 100
Invitae 2 0 20 14 9 45
OMIM 15 0 0 0 0 15
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 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.