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 |
|
28
|
105
|
176
|
16
|
28
|
339
|
Gene and significance breakdown #
Total genes and gene combinations: 20
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
137
|
12
|
16
|
166
|
|
Counsyl
|
2
|
86
|
30
|
1
|
0 |
119
|
|
Genome-Nilou Lab
|
0 |
5
|
8
|
1
|
11
|
25
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
6
|
0 |
1
|
0 |
0 |
7
|
|
Mendelics
|
0 |
0 |
0 |
1
|
5
|
6
|
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
|
Baylor Genetics
|
2
|
2
|
0 |
0 |
0 |
4
|
|
Invitae
|
2
|
1
|
1
|
0 |
0 |
4
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
3
|
1
|
0 |
0 |
0 |
4
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
2
|
1
|
0 |
0 |
0 |
3
|
|
Wangler Lab, Baylor College of Medicine
|
0 |
3
|
0 |
0 |
0 |
3
|
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
2
|
0 |
0 |
0 |
0 |
2
|
|
SIB Swiss Institute of Bioinformatics
|
1
|
0 |
0 |
0 |
1
|
2
|
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Myriad Genetics, Inc.
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Genomics England Pilot Project, Genomics England
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Diagnostics Centre, Carl Von Ossietzky University Oldenburg
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Section for Clinical Neurogenetics, University of Tübingen
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Pars Genome Lab
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
1
|
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