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 |
130
|
96
|
607
|
113
|
237
|
7
|
1167
|
Gene and significance breakdown #
Total genes and gene combinations: 30
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
GPR179
|
9
|
5
|
130
|
27
|
30
|
3
|
201
|
TRPM1
|
18
|
19
|
91
|
16
|
34
|
0 |
171
|
PDE6B
|
6
|
2
|
51
|
14
|
61
|
0 |
133
|
SLC24A1
|
7
|
1
|
81
|
10
|
14
|
0 |
113
|
CABP4
|
9
|
1
|
75
|
7
|
17
|
0 |
108
|
RHO
|
5
|
4
|
47
|
10
|
21
|
2
|
87
|
LRIT3
|
5
|
0 |
43
|
7
|
8
|
1
|
63
|
CACNA1F
|
23
|
21
|
9
|
3
|
6
|
0 |
62
|
GNAT1
|
5
|
1
|
32
|
3
|
21
|
0 |
59
|
NYX
|
9
|
9
|
20
|
8
|
6
|
0 |
52
|
GUCY2D
|
7
|
1
|
9
|
2
|
4
|
0 |
23
|
GRK1
|
4
|
20
|
0 |
1
|
0 |
0 |
22
|
GRM6, ZNF454
|
6
|
1
|
2
|
3
|
8
|
1
|
21
|
GRM6
|
5
|
3
|
2
|
1
|
1
|
0 |
11
|
LOC126862088, TRPM1
|
1
|
2
|
5
|
1
|
1
|
0 |
9
|
SAG
|
3
|
0 |
3
|
0 |
3
|
0 |
9
|
CACNA1F, LOC126863257
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
ABCA4
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
BLOC1S1-RDH5, CD63, RDH5
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
CABP4, LOC130006201
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
CDCA3, GNB3
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
GNB3
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
USH2A
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
CABP4, GPR152
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
CABP4, LOC130006202
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GRM6, LOC100130798, ZNF454
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MIR211, TRPM1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RBP3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
RLBP1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
RPGR
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
552
|
94
|
209
|
0 |
854
|
OMIM
|
69
|
0 |
0 |
0 |
0 |
0 |
69
|
Fulgent Genetics, Fulgent Genetics
|
9
|
4
|
19
|
12
|
3
|
0 |
47
|
Genome-Nilou Lab
|
1
|
0 |
0 |
0 |
35
|
0 |
36
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
5
|
22
|
0 |
0 |
0 |
0 |
27
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
13
|
6
|
0 |
0 |
0 |
0 |
19
|
Molecular Medicine, University of Leeds
|
0 |
19
|
0 |
0 |
0 |
0 |
19
|
Revvity Omics, Revvity
|
4
|
6
|
3
|
0 |
0 |
0 |
13
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
8
|
3
|
0 |
11
|
3billion
|
5
|
4
|
2
|
0 |
0 |
0 |
11
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
1
|
6
|
0 |
0 |
0 |
10
|
Mendelics
|
3
|
0 |
0 |
3
|
2
|
0 |
8
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
4
|
4
|
0 |
0 |
0 |
0 |
8
|
Genomics England Pilot Project, Genomics England
|
4
|
4
|
0 |
0 |
0 |
0 |
8
|
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center
|
0 |
7
|
1
|
0 |
0 |
0 |
8
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
2
|
2
|
3
|
0 |
0 |
0 |
7
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
1
|
2
|
3
|
0 |
0 |
0 |
6
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
5
|
0 |
0 |
0 |
6
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
1
|
2
|
0 |
0 |
0 |
6
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
5
|
1
|
0 |
0 |
6
|
MGZ Medical Genetics Center
|
1
|
4
|
0 |
0 |
0 |
0 |
5
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
DBGen Ocular Genomics
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Medical Molecular Genetics Department, National Research Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Tolun Lab, Human Genetics Laboratory, Bogazici University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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