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 |
affects |
association |
risk factor |
total |
6
|
7
|
142
|
35
|
39
|
1
|
1
|
8
|
239
|
Gene and significance breakdown #
Total genes and gene combinations: 17
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
risk factor |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
132
|
34
|
35
|
0 |
0 |
0 |
201
|
Finnell Lab, Baylor College of Medicine
|
2
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Beijing Municipal Key Laboratory, Capital Institute of Pediatrics
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
7
|
Laboratorio di Genetica e Neuroscienze, Istituto Giannina Gaslini
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
4
|
5
|
Hongyan Wang Laboratory, Fudan University
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Reproductive and Child Health, Peking University
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Genetics Institute, Tel Aviv Sourasky Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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