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 |
400
|
207
|
1062
|
713
|
96
|
4
|
2431
|
Gene and significance breakdown #
Total genes and gene combinations: 69
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
GUCY2D
|
138
|
88
|
463
|
609
|
37
|
1
|
1304
|
CEP290
|
64
|
13
|
273
|
30
|
24
|
0 |
401
|
CRB1
|
36
|
18
|
101
|
31
|
8
|
0 |
192
|
RPE65
|
36
|
22
|
46
|
9
|
9
|
0 |
115
|
GPHN, RDH12
|
17
|
8
|
29
|
8
|
2
|
0 |
62
|
LCA5
|
8
|
2
|
26
|
7
|
6
|
2
|
50
|
LRAT
|
0 |
5
|
27
|
5
|
0 |
0 |
37
|
RPGRIP1
|
20
|
9
|
2
|
0 |
3
|
0 |
33
|
AIPL1
|
8
|
3
|
13
|
5
|
1
|
0 |
30
|
GPHN, RDH12, ZFYVE26
|
5
|
4
|
15
|
1
|
0 |
0 |
24
|
TULP1
|
15
|
4
|
1
|
1
|
2
|
0 |
23
|
RD3
|
0 |
0 |
17
|
1
|
1
|
0 |
19
|
CRX
|
3
|
2
|
5
|
3
|
3
|
0 |
16
|
CEP290, RLIG1
|
3
|
0 |
11
|
1
|
0 |
0 |
15
|
SPATA7
|
6
|
6
|
0 |
0 |
0 |
0 |
12
|
NMNAT1
|
4
|
5
|
0 |
0 |
0 |
0 |
8
|
USH2A
|
0 |
1
|
6
|
0 |
0 |
0 |
7
|
ALMS1
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
IQCB1
|
5
|
2
|
0 |
0 |
0 |
0 |
6
|
CEP290, LOC129390514
|
2
|
0 |
3
|
0 |
0 |
0 |
5
|
GIGYF2, KCNJ13
|
1
|
0 |
3
|
1
|
0 |
0 |
5
|
PROM1
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
CNGB3
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
LOC130056226, SPATA7
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
RP2
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
ADAMTS18, LOC126862407
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
AHI1
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
CCT2
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
NPHP4
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
intergenic
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ABCA4
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ABCA4, LOC126805793
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ALOX12B, ALOX15B, ALOXE3, CNTROB, GUCY2D
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ALOX12B, ALOX15B, ALOXE3, GUCY2D, HES7, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
BBS1, ZDHHC24
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CC2D2A
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CDHR1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CFAP410
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CLUAP1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
COPB2-DT, RBP1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DTHD1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FSCN2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GRM6
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GRM6, ZNF454
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GUCA1B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
IFT140
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
IFT140, LOC126862260
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
IMPDH1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
IMPDH1, LOC107986845
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
INPP5E
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC122152296, USH2A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126806932, PCYT1A
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LRP5
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NPHP1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NPHP3, NPHP3-ACAD11
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NR2E3
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
OTX2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PANK2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PDE6A
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PDE6B
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PEX1
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
PRPF31
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
RGS9
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RIMS1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
RP1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
RPGRIP1L
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SLC38A8
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TEAD3, TULP1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
WDR19
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
99
|
15
|
450
|
606
|
36
|
0 |
1206
|
Natera, Inc.
|
117
|
26
|
486
|
82
|
45
|
0 |
756
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
78
|
15
|
7
|
0 |
100
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
48
|
35
|
0 |
0 |
0 |
0 |
83
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
36
|
38
|
2
|
1
|
0 |
0 |
77
|
Mendelics
|
18
|
13
|
5
|
8
|
8
|
0 |
52
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
29
|
7
|
0 |
0 |
0 |
0 |
36
|
Institute of Vision Research, Yonsei University College of Medicine
|
17
|
11
|
0 |
0 |
0 |
0 |
28
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
10
|
9
|
5
|
0 |
0 |
0 |
24
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
8
|
16
|
0 |
0 |
0 |
0 |
24
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
13
|
3
|
2
|
0 |
0 |
0 |
18
|
Rui Chen Lab, Baylor College of Medicine
|
15
|
2
|
0 |
0 |
0 |
0 |
17
|
DBGen Ocular Genomics
|
10
|
5
|
2
|
0 |
0 |
0 |
17
|
Fulgent Genetics, Fulgent Genetics
|
2
|
1
|
9
|
2
|
2
|
0 |
16
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
14
|
0 |
0 |
0 |
0 |
0 |
14
|
Cytogenetics and Genomics Laboratory, Medical University of South Carolina
|
2
|
5
|
6
|
0 |
0 |
0 |
13
|
Molecular Diagnostics Laboratory, Seoul National University Hospital
|
0 |
0 |
12
|
0 |
0 |
0 |
12
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
4
|
3
|
0 |
0 |
0 |
9
|
OMIM
|
7
|
0 |
1
|
0 |
0 |
0 |
8
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
4
|
3
|
0 |
0 |
0 |
0 |
7
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
6
|
0 |
1
|
0 |
0 |
0 |
7
|
3billion
|
1
|
4
|
0 |
0 |
0 |
0 |
5
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Genomics England Pilot Project, Genomics England
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Institute of Medical Molecular Genetics, University of Zurich
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Australian Inherited Retinal Disease Registry & DNA Bank, Sir Charles Gairdner Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Noruzinia Laboratory, Tarbiat Modares University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Pediatric Genetics, Postgraduate Institute of Medical Education and Research, Chandigarh (PGIMER)
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Erciyes University Faculty of Medicine
|
0 |
1
|
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.