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 |
risk factor |
total |
54
|
39
|
87
|
3
|
63
|
1
|
238
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
60
|
0 |
60
|
Laboratory of Hematology, Radboud University Medical Center
|
31
|
8
|
13
|
2
|
1
|
0 |
55
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
4
|
14
|
27
|
0 |
0 |
0 |
45
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
6
|
4
|
28
|
0 |
0 |
0 |
38
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
4
|
7
|
0 |
0 |
0 |
11
|
Department of Laboratory Medicine, Ruijin Hospital
|
9
|
0 |
0 |
0 |
1
|
0 |
10
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Baylor Genetics
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Mendelics
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
1
|
2
|
0 |
1
|
0 |
5
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Laboratory of Genetic Engineering, National Medical Research Center for Hematology
|
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Arcensus
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Bayan National Lab for Medical Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.