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 |
24
|
16
|
53
|
4
|
11
|
1
|
106
|
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
|
24
|
16
|
53
|
4
|
11
|
1
|
106
|
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
|
1
|
1
|
11
|
4
|
1
|
0 |
18
|
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
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
3billion, Medical Genetics
|
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
|
New York Genome Center
|
0 |
0 |
2
|
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
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
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
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
0 |
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
|
Institute of Rare Diseases, West China Hospital, Sichuan University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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