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
|
23
|
31
|
7
|
15
|
85
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
SAG
|
8
|
3
|
30
|
6
|
15
|
62
|
GRK1
|
4
|
20
|
1
|
1
|
0 |
23
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
29
|
6
|
13
|
48
|
Molecular Medicine, University of Leeds
|
0 |
19
|
0 |
0 |
0 |
19
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
9
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
3
|
0 |
0 |
4
|
Medical Molecular Genetics Department, National Research Center
|
3
|
0 |
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
2
|
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
1
|
0 |
0 |
0 |
2
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
1
|
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP
|
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
1
|
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
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