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 |
11
|
7
|
90
|
74
|
13
|
1
|
184
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
10
|
6
|
72
|
65
|
7
|
0 |
160
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
15
|
9
|
1
|
0 |
25
|
Fulgent Genetics, Fulgent Genetics
|
2
|
1
|
14
|
6
|
0 |
0 |
23
|
GeneDx
|
0 |
0 |
9
|
5
|
8
|
0 |
22
|
Dept Of Ophthalmology, Nagoya University
|
0 |
0 |
7
|
2
|
1
|
0 |
10
|
Ambry Genetics
|
0 |
0 |
8
|
0 |
0 |
0 |
8
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Paul Sabatier University EA-4555, Paul Sabatier University
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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