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 |
18
|
16
|
65
|
0 |
12
|
105
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
Baylor Genetics
|
2
|
2
|
20
|
0 |
24
|
Revvity Omics, Revvity
|
1
|
2
|
19
|
0 |
22
|
Genome-Nilou Lab
|
0 |
0 |
0 |
12
|
12
|
OMIM
|
10
|
0 |
0 |
0 |
10
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
8
|
0 |
8
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
5
|
0 |
0 |
6
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
6
|
0 |
6
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
2
|
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
3
|
0 |
3
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
2
|
1
|
0 |
3
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
2
|
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
1
|
0 |
3
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
1
|
1
|
0 |
3
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
0 |
2
|
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
1
|
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
1
|
0 |
2
|
Medical Genetics Laboratory, West China Hospital, Sichuan University
|
2
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
1
|
1
|
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
2
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
1
|
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
1
|
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