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 |
total |
|
31
|
39
|
203
|
17
|
17
|
290
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
DUOX2
|
31
|
39
|
203
|
17
|
17
|
290
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Illumina Laboratory Services, Illumina
|
3
|
6
|
169
|
15
|
16
|
209
|
|
Revvity Omics, Revvity
|
7
|
7
|
15
|
0 |
0 |
29
|
|
Fulgent Genetics, Fulgent Genetics
|
5
|
4
|
14
|
2
|
0 |
25
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
11
|
6
|
0 |
0 |
0 |
17
|
|
Genetics and Molecular Pathology, SA Pathology
|
3
|
4
|
3
|
0 |
0 |
10
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
3
|
2
|
4
|
0 |
0 |
9
|
|
3billion
|
3
|
2
|
3
|
0 |
0 |
8
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
3
|
0 |
0 |
0 |
6
|
|
Mendelics
|
2
|
0 |
1
|
0 |
2
|
5
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
0 |
4
|
5
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
0 |
0 |
4
|
5
|
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
4
|
|
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
|
0 |
4
|
0 |
0 |
0 |
4
|
|
Baylor Genetics
|
1
|
1
|
1
|
0 |
0 |
3
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
1
|
0 |
0 |
3
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
2
|
0 |
0 |
0 |
3
|
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Suma Genomics
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Medical Genetics, Medical University of Vienna
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Breakthrough Genomics, Breakthrough Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
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