ClinVar Miner

Variants studied for WAGR syndrome

Included ClinVar conditions (5):
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
23 3 372 132 65 584

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
WT1 13 3 158 75 11 256
LOC107982234, WT1 3 0 176 48 9 229
ELP4, PAX6 2 0 29 5 37 73
PAX6 1 0 5 4 8 18
LOC106014249, PAX6 0 0 4 0 0 4
LOC106707172, LOC107982234, WT1 2 0 0 0 0 2
ANO3, ANO5, ARL14EP, BBOX1, BDNF, CCDC179, CCDC34, CCDC73, CSTF3, DCDC1, DEPDC7, DNAJC24, EIF3M, ELP4, FANCF, FIBIN, FSHB, GAS2, IMMP1L, KCNA4, KIF18A, LGR4, LIN7C, LINC00294, LUZP2, METTL15, MIR610, MPPED2, MUC15, NELL1, PAX6, PRRG4, QSER1, RCN1, SLC17A6, SLC5A12, SVIP, TCP11L1, WT1 1 0 0 0 0 1
ARL14EP, CCDC73, DCDC1, DNAJC24, EIF3M, ELP4, FSHB, IMMP1L, KCNA4, MPPED2, PAX6, RCN1, WT1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 6
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 18 3 284 98 13 416
Illumina Clinical Services Laboratory,Illumina 0 0 93 34 52 179
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 4
Department of Genetics,Fundacion Jimenez Diaz University Hospital 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 0 0 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.