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 |
115
|
81
|
27
|
0 |
0 |
4
|
219
|
Gene and significance breakdown #
Total genes and gene combinations: 20
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
not provided |
total |
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
15
|
29
|
7
|
0 |
51
|
NEI Ophthalmic Genomics Laboratory, National Institutes of Health
|
18
|
14
|
13
|
0 |
45
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
29
|
14
|
0 |
0 |
43
|
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana
|
24
|
9
|
0 |
0 |
33
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
7
|
6
|
1
|
0 |
14
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
11
|
3
|
0 |
0 |
14
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
12
|
0 |
0 |
0 |
12
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
8
|
2
|
0 |
0 |
10
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
5
|
0 |
6
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
4
|
4
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
2
|
1
|
0 |
4
|
OMIM
|
3
|
0 |
0 |
0 |
3
|
DBGen Ocular Genomics
|
2
|
1
|
0 |
0 |
3
|
Rui Chen Lab, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
1
|
0 |
2
|
Department of Genetics, Fundacion Jimenez Diaz University Hospital
|
0 |
1
|
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
0 |
0 |
1
|
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