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 |
149
|
26
|
249
|
131
|
52
|
1
|
606
|
Gene and significance breakdown #
Total genes and gene combinations: 25
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
PAX6
|
131
|
21
|
95
|
103
|
14
|
0 |
362
|
CYP1B1
|
3
|
0 |
100
|
6
|
11
|
1
|
121
|
PITX2
|
0 |
0 |
38
|
6
|
19
|
0 |
63
|
ELP4, PAX6
|
8
|
1
|
10
|
8
|
5
|
0 |
32
|
CYP1B1, LOC128772254
|
0 |
0 |
3
|
0 |
2
|
0 |
5
|
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
PITRM1
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
PTCH1
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
intergenic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARHGAP35
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BMP4
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
COL4A1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CYP1B1, LOC110599580
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DAB1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ELP4, LOC105980003, LOC105980073, LOC126861176, LOC130005471, PAX6, PAX6DRR
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ELP4, LOC106007485, LOC106007493, PAX6
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
EPHB2
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
FAT1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
FAT4
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
FREM1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
LOC106007493, PAX6
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC106014249, PAX6
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PRPF8
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
RARG
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
139
|
21
|
94
|
111
|
16
|
0 |
381
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
152
|
12
|
34
|
0 |
198
|
Paul Sabatier University EA-4555, Paul Sabatier University
|
0 |
2
|
0 |
8
|
0 |
0 |
10
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
1
|
1
|
0 |
0 |
4
|
Molecular Medicine, University of Pavia
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Eye Genetics Research Group, Children's Medical Research Institute
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genetics Department, University Hospital of Toulouse
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Human Developmental Genetics Laboratory, Medical College of Wisconsin
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DBGen Ocular Genomics
|
1
|
0 |
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.