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 |
|
96
|
68
|
148
|
243
|
8
|
3
|
527
|
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
GPHN, RDH12
|
63
|
44
|
95
|
163
|
5
|
2
|
348
|
|
GPHN, RDH12, ZFYVE26
|
33
|
22
|
48
|
80
|
3
|
1
|
172
|
|
RDH12
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
|
ARG2, ATP6V1D, EIF2S1, FUT8, GARIN2, GPHN, PALS1, PIGH, PLEK2, PLEKHH1, RAD51B, RDH11, RDH12, TMEM229B, VTI1B, ZFYVE26
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
RDH11, RDH12, ZFYVE26
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Invitae
|
84
|
19
|
141
|
243
|
6
|
0 |
493
|
|
Baylor Genetics
|
39
|
31
|
0 |
0 |
0 |
0 |
70
|
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
21
|
6
|
0 |
0 |
0 |
0 |
27
|
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
16
|
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
4
|
6
|
2
|
0 |
0 |
0 |
12
|
|
Mendelics
|
5
|
5
|
0 |
0 |
0 |
0 |
10
|
|
Fulgent Genetics, Fulgent Genetics
|
4
|
2
|
4
|
0 |
0 |
0 |
10
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
3
|
2
|
0 |
0 |
0 |
6
|
|
Genome-Nilou Lab
|
1
|
0 |
2
|
0 |
3
|
0 |
6
|
|
3billion
|
1
|
3
|
2
|
0 |
0 |
0 |
6
|
|
Revvity Omics, Revvity
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
|
MGZ Medical Genetics Center
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
DBGen Ocular Genomics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Breda Genetics srl
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Pangenia Genomics, Pangenia Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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