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 |
20
|
10
|
141
|
24
|
32
|
223
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
118
|
15
|
29
|
162
|
Fulgent Genetics, Fulgent Genetics
|
2
|
1
|
25
|
12
|
1
|
41
|
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
|
Baylor Genetics
|
1
|
0 |
4
|
0 |
0 |
5
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
2
|
3
|
0 |
0 |
5
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
2
|
1
|
0 |
0 |
5
|
Revvity Omics, Revvity Omics
|
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
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
2
|
0 |
0 |
3
|
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 Institute Rare Disease Group, Broad Institute
|
1
|
1
|
0 |
0 |
0 |
2
|
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
|
Ege University Pediatric Genetics, Ege University
|
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
1
|
0 |
0 |
0 |
0 |
1
|
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