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 |
22
|
14
|
26
|
0 |
2
|
61
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
OMIM
|
15
|
0 |
0 |
0 |
15
|
Human Genetic Laboratory, University of Liege
|
2
|
1
|
7
|
0 |
10
|
Baylor Genetics
|
0 |
2
|
3
|
0 |
5
|
MVZ Medizinische Genetik Mainz
|
0 |
2
|
2
|
0 |
4
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
1
|
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
1
|
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
1
|
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
2
|
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
2
|
2
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
1
|
Molecular Biology Laboratory, Fundació Puigvert
|
0 |
1
|
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
1
|
Eurofins-Biomnis
|
0 |
1
|
0 |
0 |
1
|
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province
|
0 |
1
|
0 |
0 |
1
|
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