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 |
7
|
10
|
31
|
3
|
5
|
54
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Sydney Children's Hospital, SCHN
|
2
|
3
|
13
|
0 |
0 |
18
|
Revvity Omics, Revvity
|
0 |
0 |
5
|
0 |
0 |
5
|
Genome-Nilou Lab
|
0 |
0 |
0 |
1
|
4
|
5
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
0 |
0 |
4
|
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
2
|
0 |
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
2
|
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
1
|
2
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
0 |
1
|
0 |
0 |
1
|
Laboratory of Medical Genetics, University of Torino
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
1
|
0 |
0 |
0 |
1
|
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