ClinVar Miner

Variants studied for Axenfeld-Rieger syndrome type 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 0 39 0 25 81

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic uncertain significance benign total
PITX2 16 38 25 79
ENPEP, PITX2 1 0 0 1
PRDM5 0 1 0 1

Submitter and significance breakdown #

Total submitters: 5
Download table as spreadsheet
Submitter pathogenic uncertain significance benign total
Illumina Clinical Services Laboratory,Illumina 0 36 25 61
OMIM 9 1 0 10
Molecular Pathology, SA Pathology 7 2 0 9
Mendelics 0 0 1 1
Hunan Clinical Research Center of Ophthalmic Disease,The Second Xiangya Hospital 1 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.