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 |
established risk allele |
protective |
risk factor |
other |
not provided |
total |
302
|
307
|
1024
|
284
|
310
|
2
|
2
|
10
|
1
|
10
|
2087
|
Gene and significance breakdown #
Total genes and gene combinations: 44
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
established risk allele |
protective |
risk factor |
other |
not provided |
total |
ABCA4
|
208
|
251
|
102
|
6
|
22
|
2
|
0 |
0 |
1
|
7
|
505
|
HMCN1
|
1
|
0 |
339
|
70
|
85
|
0 |
0 |
0 |
0 |
0 |
469
|
C3
|
0 |
3
|
119
|
62
|
48
|
0 |
0 |
0 |
0 |
0 |
229
|
CFH
|
3
|
3
|
103
|
45
|
40
|
0 |
0 |
6
|
0 |
0 |
184
|
PROM1
|
11
|
0 |
59
|
29
|
27
|
0 |
0 |
0 |
0 |
1
|
126
|
CNGB3
|
2
|
1
|
77
|
8
|
20
|
0 |
0 |
0 |
0 |
1
|
109
|
RAX2
|
1
|
0 |
43
|
11
|
14
|
0 |
0 |
0 |
0 |
0 |
68
|
ELOVL4
|
4
|
1
|
39
|
7
|
19
|
0 |
0 |
0 |
0 |
0 |
67
|
FBLN5
|
8
|
0 |
44
|
10
|
12
|
0 |
0 |
0 |
0 |
0 |
67
|
C2
|
2
|
0 |
38
|
6
|
3
|
0 |
1
|
0 |
0 |
0 |
49
|
PRPH2
|
19
|
14
|
13
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
46
|
ABCA4, LOC126805793
|
13
|
14
|
7
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
30
|
MFSD8
|
6
|
7
|
8
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
25
|
ARMS2
|
0 |
0 |
7
|
5
|
9
|
0 |
0 |
2
|
0 |
0 |
22
|
ABCA4, LOC126805794
|
7
|
4
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
16
|
C2, CFB
|
1
|
0 |
3
|
8
|
6
|
0 |
1
|
0 |
0 |
0 |
16
|
APOE
|
0 |
1
|
3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
CFHR3
|
0 |
0 |
1
|
4
|
2
|
0 |
0 |
0 |
0 |
0 |
7
|
BEST1
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
CFB
|
0 |
0 |
3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
HMCN1, LOC129388665
|
0 |
0 |
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
CRX
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
HTRA1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
3
|
CRB1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CX3CR1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
2
|
HMCN1, LOC126805953
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LRIT3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ABCA4, LOC112590828, LOC126805793, LOC126805794
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CERKL
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFHR1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFHR1, CFHR3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
COL2A1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CST3, LOC130065547
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
EYS
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FLVCR1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GPHN, RDH12
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KCNV2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MT-TL1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
OPA1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PCARE
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RHO
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RP1L1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
SNRNP200
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TULP1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
established risk allele |
protective |
risk factor |
other |
not provided |
total |
Illumina Laboratory Services, Illumina
|
1
|
0 |
666
|
173
|
223
|
0 |
0 |
0 |
0 |
0 |
1063
|
Genome-Nilou Lab
|
3
|
0 |
214
|
74
|
163
|
0 |
0 |
0 |
0 |
0 |
454
|
Fulgent Genetics, Fulgent Genetics
|
34
|
19
|
128
|
106
|
21
|
0 |
0 |
0 |
0 |
0 |
308
|
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg
|
67
|
83
|
27
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
177
|
Institute of Medical Molecular Genetics, University of Zurich
|
0 |
80
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
80
|
Mendelics
|
41
|
9
|
10
|
4
|
5
|
0 |
0 |
0 |
0 |
0 |
69
|
OMIM
|
49
|
0 |
1
|
0 |
0 |
0 |
2
|
10
|
0 |
0 |
62
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
15
|
29
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
51
|
NEI Ophthalmic Genomics Laboratory, National Institutes of Health
|
18
|
14
|
13
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
45
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
7
|
35
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
44
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
29
|
14
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
43
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
17
|
8
|
16
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
41
|
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana
|
24
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
33
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
16
|
8
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
31
|
DBGen Ocular Genomics
|
9
|
9
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
27
|
3billion
|
12
|
10
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
24
|
Institute of Human Genetics, University of Leipzig Medical Center
|
13
|
6
|
2
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
23
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
10
|
4
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
21
|
MGZ Medical Genetics Center
|
9
|
6
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
18
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
15
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
15
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
11
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
15
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
12
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
12
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
9
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
4
|
5
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
6
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Molecular Genetics, Royal Melbourne Hospital
|
6
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
0 |
0 |
10
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Baylor Genetics
|
5
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
3
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
5
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Department of Ophthalmology and Visual Sciences Kyoto University
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Genetics and Molecular Pathology, SA Pathology
|
3
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Genomics England Pilot Project, Genomics England
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Arcensus
|
0 |
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Goettingen
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
UCLA Clinical Genomics Center, UCLA
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Rui Chen Lab, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital Muenster
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Ophthalmology, California Pacific Medical Center
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Wuhan Primbio Medical Laboratory
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Vision Laboratory
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Genetics, Fundacion Jimenez Diaz University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Servicio Extremeño de Salud, Hospital de Mérida
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Human Molecular Genetics Laboratory, Federal University of Parana
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Core Molecular Diagnostic Lab, McGill University Health Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Diagnostics Department, Viafet Genomics Laboratory
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Biswas-Fiss Lab at the Ammon Pinizzotto Biopharmaceutical Innovation Center, University of Delaware
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Karadeniz Technical University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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