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 |
22
|
22
|
16
|
0 |
0 |
3
|
57
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
not provided |
total |
OMIM
|
9
|
0 |
0 |
0 |
9
|
Clinical Genetics Research Group, University of Calgary
|
8
|
0 |
0 |
0 |
8
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
3
|
1
|
1
|
0 |
5
|
Baylor Genetics
|
1
|
2
|
0 |
0 |
3
|
Mendelics
|
1
|
2
|
0 |
0 |
3
|
GeneReviews
|
0 |
0 |
0 |
3
|
3
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
3
|
0 |
0 |
3
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
2
|
0 |
3
|
New York Genome Center
|
0 |
1
|
2
|
0 |
3
|
3billion
|
0 |
1
|
2
|
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
2
|
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
0 |
2
|
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
1
|
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
0 |
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
0 |
0 |
1
|
0 |
1
|
Department of Clinical Genetics, Oxford University Hospitals NHS Trust
|
1
|
0 |
0 |
0 |
1
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
0 |
0 |
0 |
1
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
1
|
0 |
0 |
1
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
1
|
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
0 |
1
|
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
1
|
The Genetics Institute, Rambam Health Care Campus
|
0 |
1
|
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
0 |
1
|
NYU Undiagnosed Diseases Program, NYU School of Medicine
|
1
|
0 |
0 |
0 |
1
|
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine
|
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
1
|
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
0 |
1
|
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
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.