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 |
16
|
13
|
62
|
5
|
12
|
103
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
56
|
4
|
11
|
71
|
OMIM
|
4
|
0 |
3
|
0 |
0 |
7
|
Genetic Services Laboratory, University of Chicago
|
5
|
0 |
0 |
0 |
0 |
5
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
3
|
0 |
0 |
0 |
5
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
4
|
5
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
4
|
5
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
5
|
Revvity Omics, Revvity
|
1
|
2
|
1
|
0 |
0 |
4
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
2
|
0 |
0 |
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
2
|
0 |
0 |
3
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
2
|
1
|
0 |
0 |
0 |
3
|
3billion
|
2
|
1
|
0 |
0 |
0 |
3
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
2
|
0 |
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
1
|
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
0 |
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
1
|
0 |
0 |
0 |
1
|
Kids Neuroscience Centre, Sydney Children's Hospitals Network
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
0 |
1
|
0 |
0 |
1
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
0 |
1
|
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