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 |
100
|
50
|
69
|
5
|
61
|
276
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Submitter and significance breakdown #
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
|
79
|
38
|
34
|
2
|
1
|
154
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
60
|
60
|
Fulgent Genetics, Fulgent Genetics
|
5
|
2
|
19
|
3
|
3
|
32
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
8
|
3
|
0 |
0 |
12
|
Laboratory of Hematology, Radboud University Medical Center
|
9
|
0 |
2
|
0 |
0 |
11
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
6
|
3billion, Medical Genetics
|
2
|
0 |
2
|
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
1
|
0 |
0 |
0 |
3
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
0 |
0 |
3
|
0 |
0 |
3
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
2
|
0 |
0 |
3
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
1
|
0 |
0 |
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
Versiti Diagnostic Laboratories, Versiti, Inc
|
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
0 |
0 |
1
|
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
1
|
Center for Precision Medicine, Vanderbilt University Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
0 |
0 |
1
|
0 |
0 |
1
|
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