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 |
20
|
2
|
84
|
13
|
23
|
139
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
70
|
11
|
21
|
102
|
Fulgent Genetics, Fulgent Genetics
|
1
|
2
|
10
|
1
|
1
|
15
|
Laboratoire de Génétique Moléculaire, CHU Bordeaux
|
11
|
0 |
0 |
0 |
0 |
11
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
1
|
0 |
4
|
0 |
0 |
5
|
Revvity Omics, Revvity Omics
|
1
|
0 |
2
|
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
1
|
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
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