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 |
23
|
21
|
52
|
2
|
7
|
15
|
105
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
11
|
13
|
13
|
1
|
0 |
0 |
38
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
0 |
14
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
14
|
14
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
2
|
5
|
0 |
0 |
0 |
11
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
9
|
0 |
0 |
0 |
10
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Genetics and Molecular Pathology, SA Pathology
|
3
|
2
|
1
|
0 |
0 |
0 |
6
|
3billion
|
3
|
0 |
3
|
0 |
0 |
0 |
6
|
Mendelics
|
2
|
1
|
1
|
1
|
0 |
0 |
5
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
Baylor Genetics
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Suma Genomics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Biology Laboratory, Fundació Puigvert
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
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.