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 |
not provided |
total |
9
|
8
|
61
|
2
|
2
|
1
|
81
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
10
|
0 |
0 |
0 |
11
|
Baylor Genetics
|
1
|
0 |
8
|
0 |
0 |
0 |
9
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
8
|
0 |
0 |
0 |
9
|
3billion
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
MGZ Medical Genetics Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
New York Genome Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, University of Torino
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Pediatrics, Sichuan Provincial Hospital For Women And Children
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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