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 |
|
29
|
69
|
33
|
9
|
19
|
2
|
150
|
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
|
14
|
46
|
8
|
2
|
0 |
0 |
70
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
4
|
2
|
10
|
0 |
16
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
2
|
10
|
1
|
0 |
0 |
14
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
12
|
0 |
12
|
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
5
|
6
|
1
|
0 |
0 |
0 |
12
|
|
3billion
|
5
|
3
|
1
|
0 |
0 |
0 |
9
|
|
Revvity Omics, Revvity
|
2
|
2
|
2
|
0 |
0 |
0 |
6
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
4
|
0 |
0 |
4
|
|
Baylor Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Center 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
|
|
DBGen Ocular Genomics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Institute of Medical Molecular Genetics, University of Zurich
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Moosajee Lab, UCL Institute of Ophthalmology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
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
|
|
Genomics, Clalit Research Institute, Clalit Health Care
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Variantyx, Inc.
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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