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 |
|
20
|
16
|
22
|
8
|
19
|
1
|
80
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Fulgent Genetics, Fulgent Genetics
|
5
|
2
|
8
|
2
|
0 |
0 |
17
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
4
|
2
|
10
|
0 |
16
|
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
5
|
6
|
1
|
0 |
0 |
0 |
12
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
12
|
0 |
12
|
|
Revvity Omics, Revvity
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
4
|
0 |
0 |
4
|
|
3billion
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Baylor Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Institute of Medical Molecular Genetics, University of Zurich
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Moosajee Lab, UCL Institute of Ophthalmology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
DBGen Ocular Genomics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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