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 |
88
|
52
|
397
|
235
|
43
|
3
|
748
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
60
|
6
|
306
|
216
|
38
|
0 |
626
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
51
|
7
|
12
|
0 |
71
|
Dept Of Ophthalmology, Nagoya University
|
2
|
0 |
28
|
6
|
9
|
0 |
45
|
Blueprint Genetics
|
4
|
11
|
15
|
0 |
0 |
0 |
30
|
Ambry Genetics
|
1
|
0 |
26
|
1
|
0 |
0 |
28
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
14
|
0 |
6
|
0 |
20
|
CeGaT Center for Human Genetics Tuebingen
|
3
|
2
|
7
|
2
|
1
|
0 |
15
|
GeneDx
|
3
|
4
|
3
|
1
|
3
|
0 |
14
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
2
|
2
|
3
|
5
|
0 |
13
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
13
|
0 |
13
|
Faculty of Health Sciences, Beirut Arab University
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
9
|
0 |
0 |
9
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
7
|
0 |
0 |
0 |
0 |
9
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
5
|
2
|
0 |
0 |
0 |
7
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
2
|
4
|
0 |
7
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
5
|
1
|
0 |
7
|
Mendelics
|
3
|
2
|
0 |
0 |
1
|
0 |
6
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
1
|
2
|
3
|
0 |
0 |
0 |
6
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
2
|
2
|
0 |
0 |
5
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
3
|
1
|
1
|
0 |
0 |
0 |
5
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
NEI Ophthalmic Genomics Laboratory, National Institutes of Health
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Department of Ophthalmology and Visual Sciences Kyoto University
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
DBGen Ocular Genomics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Bionano Laboratories
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
3billion
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
INSERM U1051, Institut des Neurosciences de Montpellier
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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