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 |
98
|
81
|
666
|
470
|
93
|
6
|
1246
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
79
|
32
|
446
|
415
|
77
|
0 |
1049
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
151
|
28
|
29
|
0 |
210
|
Dept Of Ophthalmology, Nagoya University
|
0 |
7
|
55
|
8
|
16
|
0 |
86
|
Ambry Genetics
|
0 |
0 |
56
|
6
|
0 |
0 |
62
|
Eurofins Ntd Llc (ga)
|
3
|
0 |
21
|
4
|
17
|
0 |
45
|
GeneDx
|
5
|
4
|
19
|
1
|
3
|
0 |
32
|
CeGaT Center for Human Genetics Tuebingen
|
7
|
1
|
10
|
8
|
3
|
0 |
29
|
Blueprint Genetics
|
10
|
7
|
10
|
0 |
0 |
0 |
27
|
PreventionGenetics, part of Exact Sciences
|
1
|
0 |
0 |
17
|
8
|
0 |
26
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
5
|
4
|
10
|
0 |
19
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
2
|
0 |
2
|
14
|
0 |
0 |
18
|
Fulgent Genetics, Fulgent Genetics
|
5
|
2
|
8
|
2
|
0 |
0 |
17
|
Clinical Genetics, Academic Medical Center
|
1
|
0 |
1
|
3
|
10
|
0 |
15
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
5
|
6
|
1
|
0 |
0 |
0 |
12
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
12
|
0 |
12
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
1
|
6
|
4
|
0 |
0 |
0 |
11
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
2
|
6
|
1
|
0 |
0 |
11
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
9
|
1
|
0 |
0 |
0 |
11
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
1
|
1
|
0 |
7
|
0 |
10
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
0 |
2
|
4
|
0 |
0 |
0 |
6
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
NEI Ophthalmic Genomics Laboratory, National Institutes of Health
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
3
|
2
|
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
3billion
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Mendelics
|
2
|
0 |
0 |
1
|
0 |
0 |
3
|
INSERM U1051, Institut des Neurosciences de Montpellier
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Faculty of Health Sciences, Beirut Arab University
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Baylor Genetics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Institute of Medical Molecular Genetics, University of Zurich
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Department of Ophthalmology and Visual Sciences Kyoto University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Moosajee Lab, UCL Institute of Ophthalmology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
DBGen Ocular Genomics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Bionano Laboratories
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
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 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
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