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 |
194
|
117
|
252
|
369
|
25
|
857
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
149
|
28
|
196
|
352
|
20
|
745
|
ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen
|
56
|
26
|
9
|
13
|
8
|
112
|
Baylor Genetics
|
72
|
39
|
0 |
0 |
0 |
111
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
50
|
8
|
7
|
66
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
27
|
22
|
0 |
0 |
0 |
49
|
Fulgent Genetics, Fulgent Genetics
|
8
|
2
|
4
|
3
|
1
|
18
|
Counsyl
|
2
|
0 |
2
|
9
|
2
|
15
|
OMIM
|
11
|
0 |
1
|
0 |
0 |
12
|
Mendelics
|
6
|
3
|
0 |
0 |
1
|
10
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
4
|
3
|
3
|
0 |
0 |
10
|
DBGen Ocular Genomics
|
6
|
1
|
3
|
0 |
0 |
10
|
SIB Swiss Institute of Bioinformatics
|
0 |
5
|
4
|
0 |
0 |
9
|
Genome-Nilou Lab
|
1
|
0 |
3
|
1
|
4
|
9
|
3billion
|
4
|
3
|
0 |
0 |
0 |
7
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
2
|
1
|
2
|
0 |
0 |
5
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
1
|
1
|
0 |
0 |
4
|
Neuberg Centre For Genomic Medicine, NCGM
|
2
|
1
|
1
|
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
1
|
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
2
|
0 |
0 |
0 |
3
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
1
|
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
0 |
0 |
0 |
2
|
Pars Genome Lab
|
1
|
0 |
0 |
1
|
0 |
2
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Eye Genetics Research Group, Children's Medical Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
Blueprint Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
1
|
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
1
|
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, University of Torino
|
1
|
0 |
0 |
0 |
0 |
1
|
Genetics Laboratory, Department of Biology, Semnan University
|
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
1
|
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