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 |
50
|
14
|
229
|
192
|
39
|
7
|
490
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
39
|
5
|
158
|
181
|
32
|
0 |
415
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
74
|
11
|
11
|
0 |
96
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
17
|
1
|
0 |
0 |
0 |
0 |
18
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
7
|
7
|
3billion
|
1
|
4
|
2
|
0 |
0 |
0 |
7
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Revvity Omics, Revvity Omics
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
DBGen Ocular Genomics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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