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 |
27
|
23
|
190
|
16
|
31
|
286
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
159
|
16
|
28
|
203
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
16
|
5
|
13
|
0 |
0 |
34
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
1
|
13
|
6
|
0 |
0 |
20
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
11
|
0 |
0 |
11
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
8
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Baylor Genetics
|
0 |
0 |
4
|
0 |
0 |
4
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
2
|
0 |
0 |
3
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
0 |
3
|
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
2
|
0 |
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
1
|
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
0 |
0 |
1
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine
|
1
|
0 |
0 |
0 |
0 |
1
|
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