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 |
|
42
|
33
|
58
|
1
|
7
|
133
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
36
|
1
|
5
|
42
|
|
Fulgent Genetics, Fulgent Genetics
|
10
|
14
|
1
|
0 |
0 |
25
|
|
3billion
|
8
|
5
|
7
|
0 |
0 |
20
|
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
9
|
5
|
0 |
0 |
0 |
14
|
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
13
|
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
1
|
5
|
3
|
0 |
0 |
9
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
2
|
1
|
4
|
0 |
0 |
7
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
6
|
0 |
0 |
0 |
0 |
6
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
5
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
2
|
1
|
0 |
0 |
4
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
2
|
2
|
0 |
0 |
0 |
4
|
|
Genomics England Pilot Project, Genomics England
|
2
|
1
|
0 |
0 |
0 |
3
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
1
|
|
CGC Genetics, Unilabs
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Chongqing Key Laboratory of Prevention and Treatment of Major Blinding Diseases, The First Affiliated Hospital of Chongqing Medical University
|
1
|
0 |
0 |
0 |
0 |
1
|
|
DBGen Ocular Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Genetic Diseases Diagnosis Center, Ankara Bilkent City Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
1
|
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Medical Genetics Lab, Policlinico S. Orsola.Malpighi
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
1
|
|
SingHealth Duke-NUS Institute of Precision Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
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