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 |
|
20
|
51
|
98
|
14
|
19
|
1
|
192
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
86
|
10
|
10
|
0 |
106
|
|
Baylor Genetics
|
6
|
33
|
1
|
0 |
0 |
0 |
40
|
|
Fulgent Genetics, Fulgent Genetics
|
2
|
7
|
6
|
0 |
0 |
0 |
15
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
6
|
3
|
0 |
0 |
0 |
9
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
2
|
2
|
1
|
0 |
5
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Revvity Omics, Revvity
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
0 |
1
|
0 |
0 |
2
|
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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