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 |
22
|
6
|
210
|
84
|
120
|
400
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
124
|
20
|
61
|
205
|
Invitae
|
7
|
0 |
43
|
42
|
52
|
144
|
GeneDx
|
2
|
1
|
1
|
23
|
63
|
90
|
Ambry Genetics
|
0 |
0 |
57
|
3
|
0 |
60
|
Preventiongenetics, part of Exact Sciences
|
1
|
0 |
3
|
2
|
19
|
25
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
13
|
13
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
2
|
3
|
5
|
0 |
11
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
6
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
2
|
2
|
5
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
4
|
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
2
|
0 |
3
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Revvity Omics, Revvity Omics
|
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
0 |
1
|
0 |
1
|
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo
|
0 |
0 |
1
|
0 |
0 |
1
|
Department of Ophthalmology, Flinders University
|
0 |
0 |
0 |
0 |
1
|
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
0 |
1
|
Laboratoire de Génétique Moléculaire, CHU Bordeaux
|
1
|
0 |
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems
|
0 |
1
|
0 |
0 |
0 |
1
|
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