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 |
|
12
|
9
|
66
|
11
|
10
|
103
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
PDE6C
|
12
|
9
|
66
|
11
|
10
|
103
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
59
|
9
|
9
|
78
|
|
3billion, Medical Genetics
|
5
|
0 |
1
|
0 |
0 |
6
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
2
|
0 |
0 |
3
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
2
|
1
|
0 |
0 |
0 |
3
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
1
|
3
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
2
|
1
|
0 |
0 |
3
|
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Mendelics
|
1
|
0 |
0 |
0 |
1
|
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Medical Molecular Genetics, University of Zurich
|
0 |
1
|
0 |
0 |
0 |
1
|
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Medical Genetics, Erciyes University Faculty of Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
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