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 |
78
|
31
|
480
|
341
|
61
|
1
|
965
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
68
|
18
|
455
|
326
|
45
|
0 |
912
|
Ambry Genetics
|
0 |
0 |
55
|
3
|
0 |
0 |
58
|
GeneDx
|
1
|
1
|
1
|
8
|
18
|
0 |
29
|
CeGaT Center for Human Genetics Tuebingen
|
4
|
2
|
10
|
6
|
1
|
0 |
23
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
2
|
1
|
6
|
0 |
9
|
Blueprint Genetics
|
1
|
5
|
3
|
0 |
0 |
0 |
9
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
2
|
7
|
0 |
0 |
9
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Eurofins Ntd Llc (ga)
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Preventiongenetics, part of Exact Sciences
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Revvity Omics, Revvity Omics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bionano Laboratories
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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