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 |
95
|
47
|
47
|
2
|
61
|
245
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
VWF
|
95
|
47
|
47
|
2
|
61
|
245
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
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
|
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
|
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
|
Baylor Genetics
|
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 |
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
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
1
|
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