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 |
total |
|
46
|
69
|
341
|
43
|
104
|
588
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
267
|
29
|
71
|
367
|
|
Genome-Nilou Lab
|
0 |
0 |
34
|
19
|
64
|
117
|
|
Myriad Genetics, Inc.
|
1
|
41
|
5
|
0 |
0 |
47
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
3
|
7
|
1
|
0 |
12
|
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
0 |
1
|
11
|
0 |
0 |
12
|
|
3billion
|
6
|
1
|
3
|
0 |
0 |
10
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
6
|
0 |
0 |
8
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
5
|
1
|
2
|
0 |
0 |
8
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
3
|
3
|
0 |
0 |
7
|
|
OMIM
|
6
|
0 |
1
|
0 |
0 |
7
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
2
|
1
|
0 |
0 |
4
|
|
Institute of Rare Diseases, West China Hospital, Sichuan University
|
4
|
0 |
0 |
0 |
0 |
4
|
|
Pars Genome Lab
|
0 |
0 |
2
|
1
|
1
|
4
|
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
2
|
1
|
0 |
0 |
0 |
3
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
2
|
0 |
1
|
0 |
0 |
3
|
|
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen
|
2
|
0 |
1
|
0 |
0 |
3
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
3
|
0 |
0 |
0 |
3
|
|
Molecular Genetics Laboratory; Baylor College of Medicine
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Clinical Genomics Laboratory, Stanford Medicine
|
2
|
0 |
0 |
0 |
0 |
2
|
|
DBGen Ocular Genomics
|
0 |
1
|
1
|
0 |
0 |
2
|
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
2
|
0 |
0 |
0 |
2
|
|
INGEBI, INGEBI / CONICET
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Laboratory of Prof. Karen Avraham, Tel Aviv University
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Mendelics
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
2
|
0 |
0 |
0 |
0 |
2
|
|
New York Genome Center
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Department of Medical Genetics, Erciyes University Faculty of Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Department of biochemistry and genetics, Arak University of Medical sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
1
|
0 |
0 |
0 |
1
|
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
MVZ Martinsried, Medicover Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
|
National Institute on Deafness and Communication Disorders, National Institutes of Health
|
1
|
0 |
0 |
0 |
0 |
1
|
|
OLLIN Analises Genomicas, OLLIN
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Translational Hearing Genomics Lab, Boston Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
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