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 |
308
|
481
|
519
|
166
|
80
|
1425
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Genome-Nilou Lab
|
89
|
204
|
469
|
166
|
80
|
1008
|
Baylor Genetics
|
260
|
278
|
15
|
0 |
0 |
553
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
19
|
39
|
36
|
0 |
1
|
95
|
Counsyl
|
23
|
19
|
1
|
0 |
0 |
43
|
DBGen Ocular Genomics
|
6
|
11
|
8
|
0 |
0 |
25
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
8
|
3
|
9
|
0 |
0 |
20
|
Institute of Human Genetics, University of Leipzig Medical Center
|
7
|
3
|
1
|
0 |
0 |
11
|
Genomics England Pilot Project, Genomics England
|
9
|
2
|
0 |
0 |
0 |
11
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
3
|
3
|
0 |
0 |
0 |
6
|
Genetics and Molecular Pathology, SA Pathology
|
4
|
2
|
0 |
0 |
0 |
6
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
3
|
0 |
0 |
0 |
4
|
3billion
|
2
|
2
|
0 |
0 |
0 |
4
|
Pangenia Genomics, Pangenia Inc.
|
2
|
0 |
2
|
0 |
0 |
4
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
2
|
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
2
|
Broad Institute Rare Disease Group, Broad Institute
|
1
|
1
|
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
1
|
Servicio Extremeño de Salud, Hospital de Mérida
|
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
1
|
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
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