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 |
366
|
296
|
654
|
751
|
68
|
61
|
1902
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
288
|
82
|
421
|
720
|
31
|
0 |
1542
|
Genome-Nilou Lab
|
48
|
33
|
78
|
24
|
9
|
0 |
192
|
Natera, Inc.
|
19
|
6
|
96
|
27
|
8
|
0 |
156
|
Baylor Genetics
|
67
|
73
|
1
|
0 |
0 |
0 |
141
|
Illumina Laboratory Services, Illumina
|
3
|
0 |
63
|
16
|
26
|
0 |
80
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
43
|
29
|
4
|
0 |
0 |
0 |
76
|
GeneDx
|
13
|
5
|
19
|
5
|
30
|
0 |
72
|
Blueprint Genetics
|
23
|
21
|
25
|
0 |
0 |
0 |
69
|
Retina International
|
0 |
0 |
0 |
0 |
0 |
60
|
60
|
Dept Of Ophthalmology, Nagoya University
|
5
|
6
|
38
|
7
|
1
|
0 |
57
|
CeGaT Center for Human Genetics Tuebingen
|
18
|
4
|
26
|
7
|
0 |
0 |
55
|
Ambry Genetics
|
2
|
0 |
40
|
3
|
0 |
0 |
45
|
Fulgent Genetics, Fulgent Genetics
|
9
|
5
|
18
|
4
|
0 |
0 |
36
|
Eurofins Ntd Llc (ga)
|
8
|
1
|
17
|
2
|
6
|
0 |
34
|
Mendelics
|
12
|
8
|
2
|
4
|
0 |
0 |
26
|
PreventionGenetics, part of Exact Sciences
|
3
|
3
|
2
|
11
|
5
|
0 |
24
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
2
|
7
|
11
|
1
|
0 |
0 |
21
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
18
|
0 |
1
|
0 |
0 |
0 |
19
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
2
|
14
|
0 |
0 |
0 |
19
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
3
|
13
|
1
|
0 |
0 |
0 |
17
|
Revvity Omics, Revvity
|
5
|
7
|
4
|
0 |
0 |
0 |
16
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
4
|
8
|
3
|
0 |
0 |
0 |
15
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
9
|
6
|
0 |
0 |
0 |
0 |
15
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
1
|
2
|
5
|
4
|
0 |
14
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
6
|
1
|
4
|
1
|
1
|
0 |
13
|
3billion
|
2
|
7
|
4
|
0 |
0 |
0 |
13
|
DBGen Ocular Genomics
|
4
|
8
|
1
|
0 |
0 |
0 |
13
|
Clinical Genetics, Academic Medical Center
|
3
|
1
|
5
|
2
|
1
|
0 |
12
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
11
|
1
|
0 |
0 |
0 |
0 |
12
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
3
|
0 |
4
|
5
|
0 |
0 |
12
|
Faculty of Health Sciences, Beirut Arab University
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
0 |
4
|
6
|
0 |
0 |
0 |
10
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
4
|
4
|
2
|
0 |
0 |
0 |
10
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
2
|
4
|
0 |
0 |
0 |
9
|
Institute of Medical Molecular Genetics, University of Zurich
|
0 |
7
|
0 |
0 |
0 |
0 |
7
|
Molecular Medicine, University of Leeds
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
INSERM U1051, Institut des Neurosciences de Montpellier
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
3
|
0 |
2
|
0 |
0 |
0 |
5
|
Genomics England Pilot Project, Genomics England
|
2
|
3
|
0 |
0 |
0 |
0 |
5
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
1
|
3
|
0 |
0 |
4
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, Seoul National University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Pars Genome Lab
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
DASA
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Pangenia Genomics, Pangenia Inc.
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
NEI Ophthalmic Genomics Laboratory, National Institutes of Health
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Ophthalmology and Visual Sciences Kyoto University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rui Chen Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Moosajee Lab, UCL Institute of Ophthalmology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Vision Research, Yonsei University College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kunming Medical University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Psychiatry, The University of Hong Kong
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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