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 |
380
|
146
|
100
|
30
|
26
|
1
|
641
|
Gene and significance breakdown #
Total genes and gene combinations: 11
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
F8
|
363
|
136
|
98
|
29
|
26
|
1
|
611
|
F9
|
10
|
10
|
1
|
0 |
0 |
0 |
21
|
F8, F8A1, FUNDC2, H2AB1, LOC106146143, LOC106146150, LOC125467795, LOC126863349, LOC130068888, LOC130068889, LOC130068890, LOC130068891, LOC130068892, LOC130068893, LOC130068894, MIR1184-1, MPP1, SMIM9
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
F8, F8A1, H2AB1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
F8, F8A1, H2AB1, LOC106146143, LOC106146150, LOC125467795, LOC126863349, LOC130068891, LOC130068892, MIR1184-1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
F8, F8A1, LOC106146150
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
F8, FUNDC2, LOC130068894
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
F8, LOC106146143, LOC125467795, LOC130068891, LOC130068892
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
F8, LOC126863349, LOC130068891, LOC130068892
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
F8, LOC130068891, LOC130068892
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
VWF
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
OMIM
|
262
|
0 |
0 |
0 |
0 |
0 |
262
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
70
|
50
|
23
|
9
|
8
|
0 |
160
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
32
|
17
|
15
|
0 |
66
|
Genetics and Molecular Pathology, SA Pathology
|
16
|
24
|
11
|
1
|
0 |
0 |
52
|
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
|
27
|
4
|
0 |
0 |
0 |
0 |
31
|
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen
|
23
|
0 |
0 |
0 |
5
|
0 |
28
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
19
|
6
|
0 |
0 |
0 |
0 |
25
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
7
|
15
|
3
|
0 |
0 |
0 |
25
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
10
|
11
|
1
|
1
|
0 |
0 |
23
|
3billion
|
12
|
10
|
1
|
0 |
0 |
0 |
23
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
4
|
3
|
14
|
0 |
0 |
0 |
21
|
Mendelics
|
3
|
4
|
3
|
1
|
3
|
0 |
14
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
0 |
5
|
0 |
0 |
0 |
8
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
3
|
3
|
0 |
0 |
0 |
8
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
2
|
3
|
1
|
0 |
0 |
0 |
6
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Baylor Genetics
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
GeneReviews
|
0 |
0 |
0 |
0 |
1
|
1
|
2
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Molecular Genetics and Enzymology, National Research Centre
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Lifecell International Pvt. Ltd
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Versiti Diagnostic Laboratories, Versiti, Inc
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
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.