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 |
117
|
83
|
35
|
8
|
6
|
244
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
RPGR
|
114
|
81
|
30
|
5
|
5
|
230
|
RP2
|
2
|
1
|
5
|
3
|
1
|
12
|
CFAP47, CXorf22, CXorf30, CYBB, DYNLT3, FAM47C, H2AP, LANCL3, MAGEB16, OTC, PRRG1, RPGR, SRPX, SYTL5, TSPAN7, XK
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC130068098, RPGR
|
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Blueprint Genetics
|
51
|
45
|
10
|
0 |
0 |
106
|
OMIM
|
21
|
0 |
0 |
0 |
0 |
21
|
DBGen Ocular Genomics
|
10
|
2
|
7
|
0 |
0 |
19
|
Mendelics
|
7
|
4
|
1
|
0 |
1
|
13
|
Institute of Medical Molecular Genetics, University of Zurich
|
8
|
4
|
0 |
0 |
0 |
12
|
Baylor Genetics
|
6
|
3
|
1
|
0 |
0 |
10
|
Fulgent Genetics, Fulgent Genetics
|
3
|
0 |
1
|
4
|
2
|
10
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
4
|
2
|
4
|
0 |
0 |
10
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
2
|
5
|
2
|
0 |
0 |
9
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
8
|
0 |
0 |
0 |
0 |
8
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
4
|
3
|
0 |
7
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
6
|
0 |
1
|
0 |
0 |
7
|
3billion
|
3
|
4
|
0 |
0 |
0 |
7
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
1
|
2
|
0 |
0 |
5
|
MGZ Medical Genetics Center
|
2
|
2
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
3
|
0 |
0 |
0 |
4
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
3
|
0 |
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital Muenster
|
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
2
|
0 |
0 |
0 |
0 |
2
|
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center
|
1
|
1
|
0 |
0 |
0 |
2
|
Northern Molecular Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust
|
1
|
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Eye Genetics Research Group, Children's Medical Research Institute
|
0 |
1
|
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
1
|
Edmonton Ocular Genetics, Alberta Health Services
|
1
|
0 |
0 |
0 |
0 |
1
|
Genetics Laboratory, Department of Biology, Semnan University
|
1
|
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
0 |
1
|
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
1
|
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.