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 |
17
|
11
|
8
|
2
|
0 |
34
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
OMIM
|
7
|
0 |
0 |
0 |
7
|
Arnesen Lab, University of Bergen
|
4
|
1
|
1
|
0 |
6
|
Baylor Genetics
|
3
|
1
|
1
|
0 |
5
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
5
|
0 |
0 |
0 |
5
|
3billion
|
2
|
2
|
1
|
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
2
|
0 |
4
|
Mendelics
|
1
|
2
|
0 |
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
1
|
0 |
2
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
1
|
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
1
|
0 |
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
1
|
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
1
|
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris
|
1
|
0 |
0 |
0 |
1
|
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital
|
1
|
0 |
0 |
0 |
1
|
TIDEX, University of British Columbia
|
0 |
1
|
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
1
|
Laboratory of Medical Genetics, University of Torino
|
1
|
0 |
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
1
|
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
1
|
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
1
|
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