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 |
total |
|
48
|
30
|
14
|
0 |
2
|
86
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
|
OMIM
|
33
|
0 |
0 |
0 |
33
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
8
|
10
|
0 |
0 |
18
|
|
Genome-Nilou Lab
|
1
|
3
|
7
|
2
|
13
|
|
Myriad Genetics, Inc.
|
6
|
3
|
0 |
0 |
9
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
5
|
3
|
0 |
0 |
8
|
|
Baylor Genetics
|
2
|
1
|
2
|
0 |
5
|
|
Centogene AG - the Rare Disease Company
|
5
|
0 |
0 |
0 |
5
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
1
|
1
|
0 |
4
|
|
Department of Medical Biology, Faculty of Medicine, Hacettepe University
|
2
|
2
|
0 |
0 |
4
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
0 |
0 |
0 |
3
|
|
Illumina Laboratory Services, Illumina
|
3
|
0 |
0 |
0 |
3
|
|
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
|
1
|
1
|
1
|
0 |
3
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
0 |
0 |
0 |
2
|
|
Mendelics
|
0 |
0 |
2
|
0 |
2
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
2
|
0 |
0 |
0 |
2
|
|
Hadassah Hebrew University Medical Center
|
2
|
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
0 |
0 |
2
|
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
1
|
0 |
0 |
2
|
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
1
|
0 |
1
|
0 |
2
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
2
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
1
|
0 |
2
|
|
NxGen MDx
|
0 |
2
|
0 |
0 |
2
|
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
0 |
0 |
2
|
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
1
|
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
1
|
|
Counsyl
|
0 |
1
|
0 |
0 |
1
|
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
1
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
1
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
1
|
|
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics
|
1
|
0 |
0 |
0 |
1
|
|
DASA
|
0 |
1
|
0 |
0 |
1
|
|
Genetic Diagnostics Department, Viafet Genomics Laboratory
|
1
|
0 |
0 |
0 |
1
|
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