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 |
|
103
|
100
|
102
|
10
|
24
|
3
|
307
|
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
CNGB3
|
103
|
98
|
102
|
10
|
24
|
3
|
305
|
|
CNGA3
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
72
|
9
|
21
|
0 |
103
|
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
81
|
11
|
6
|
0 |
0 |
0 |
98
|
|
Fulgent Genetics, Fulgent Genetics
|
16
|
32
|
5
|
0 |
0 |
0 |
53
|
|
Counsyl
|
2
|
33
|
7
|
0 |
0 |
0 |
42
|
|
Myriad Genetics, Inc.
|
1
|
18
|
2
|
0 |
0 |
0 |
21
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
13
|
3
|
0 |
0 |
0 |
0 |
16
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
4
|
2
|
8
|
0 |
0 |
0 |
14
|
|
Genome-Nilou Lab
|
0 |
0 |
1
|
2
|
8
|
0 |
11
|
|
3billion
|
4
|
3
|
2
|
0 |
0 |
0 |
9
|
|
Revvity Omics, Revvity
|
5
|
2
|
0 |
0 |
0 |
0 |
7
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
|
Mendelics
|
2
|
1
|
0 |
0 |
2
|
0 |
5
|
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
|
Institute of Medical Molecular Genetics, University of Zurich
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Genomics England Pilot Project, Genomics England
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
CENTOGENE GmbH and LLC - Guiding Precision Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
DBGen Ocular Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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