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 |
|
27
|
18
|
368
|
31
|
32
|
465
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Fulgent Genetics, Fulgent Genetics
|
6
|
8
|
251
|
18
|
1
|
284
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
118
|
15
|
29
|
162
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
10
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
7
|
7
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
7
|
7
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
7
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
3
|
4
|
0 |
0 |
7
|
|
Baylor Genetics
|
1
|
0 |
4
|
0 |
0 |
5
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
2
|
1
|
0 |
0 |
5
|
|
Revvity Omics, Revvity
|
1
|
2
|
1
|
0 |
0 |
4
|
|
Mendelics
|
2
|
1
|
0 |
0 |
0 |
3
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
0 |
2
|
0 |
0 |
3
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
2
|
0 |
0 |
3
|
|
3billion, Medical Genetics
|
1
|
0 |
0 |
2
|
0 |
3
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Precision Medicine Center, Zhengzhou University
|
2
|
0 |
0 |
0 |
0 |
2
|
|
MVZ Medizinische Genetik Mainz
|
1
|
0 |
1
|
0 |
0 |
2
|
|
CGC Genetics, Unilabs
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Ege University Pediatric Genetics, Ege University
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
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