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 |
86
|
46
|
260
|
62
|
21
|
2
|
467
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Fulgent Genetics, Fulgent Genetics
|
50
|
31
|
146
|
54
|
0 |
0 |
281
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
108
|
7
|
15
|
0 |
130
|
UW Hindbrain Malformation Research Program, University of Washington
|
30
|
0 |
0 |
0 |
0 |
0 |
30
|
Genome-Nilou Lab
|
2
|
2
|
14
|
2
|
6
|
0 |
26
|
New York Genome Center
|
1
|
1
|
21
|
0 |
0 |
0 |
23
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
12
|
1
|
4
|
0 |
0 |
0 |
17
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Suma Genomics
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Molecular Biology Laboratory, Fundació Puigvert
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Pars Genome Lab
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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