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
|
14
|
47
|
4
|
11
|
1
|
97
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
OTOG
|
23
|
14
|
47
|
4
|
11
|
1
|
97
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Revvity Omics, Revvity
|
6
|
4
|
9
|
0 |
0 |
0 |
19
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
2
|
10
|
4
|
1
|
0 |
17
|
|
Baylor Genetics
|
0 |
0 |
16
|
0 |
0 |
0 |
16
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
10
|
0 |
10
|
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
1
|
3
|
0 |
0 |
0 |
7
|
|
King Laboratory, University of Washington
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
3billion
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
Institute of Human Genetics, Cologne University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
WangQJ Lab, Chinese People's Liberation Army General Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Wangler Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
The Genetic Institute, Ha'emek Medical center, Ha'emek Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Human Genetics, Hannover Medical School
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
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.