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 |
41
|
23
|
166
|
233
|
85
|
15
|
549
|
Gene and significance breakdown #
Total genes and gene combinations: 17
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
3
|
0 |
86
|
177
|
79
|
0 |
345
|
Fulgent Genetics, Fulgent Genetics
|
7
|
9
|
61
|
54
|
4
|
0 |
135
|
Demoulin lab, University of Louvain
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
11
|
11
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
1
|
6
|
0 |
0 |
0 |
8
|
Genetic Services Laboratory, University of Chicago
|
4
|
3
|
0 |
0 |
0 |
0 |
7
|
Baylor Genetics
|
0 |
1
|
5
|
0 |
0 |
0 |
6
|
Database of Curated Mutations (DoCM)
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Mendelics
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Center for Applied Genomics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
GenomeConnect - CureCADASIL
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dobyns Lab, Seattle Children's Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Hunter Genetics General Clinical Genetics Service, Hunter Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics For Life
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Coban-Akdemir Lab, University of Texas Health Science Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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