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 |
|
88
|
38
|
246
|
371
|
38
|
1
|
757
|
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 |
|
Invitae
|
80
|
20
|
228
|
362
|
31
|
0 |
721
|
|
Genome-Nilou Lab
|
6
|
10
|
49
|
8
|
12
|
0 |
85
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
17
|
3
|
16
|
0 |
36
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
0 |
9
|
8
|
15
|
0 |
34
|
|
Fulgent Genetics, Fulgent Genetics
|
3
|
1
|
10
|
2
|
0 |
0 |
16
|
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
5
|
1
|
0 |
0 |
0 |
7
|
|
Revvity Omics, Revvity
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Institute of Human Genetics, Cologne University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Medical Genetics, Spectrum Health
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
3billion
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Istanbul Faculty of Medicine, Istanbul University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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