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 |
|
36
|
47
|
139
|
2
|
6
|
10
|
217
|
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
DDX41
|
36
|
47
|
138
|
2
|
6
|
10
|
216
|
|
DNAAF3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Baylor Genetics
|
9
|
13
|
102
|
0 |
0 |
0 |
124
|
|
Saint-Louis Hospital, Assistance Publique Hôpitaux de Paris
|
13
|
17
|
1
|
0 |
0 |
0 |
31
|
|
Clinical Genomics Labs, University Health Network
|
12
|
0 |
17
|
0 |
0 |
0 |
29
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
4
|
18
|
0 |
0 |
0 |
23
|
|
Molecular Pathology, Peter Maccallum Cancer Centre
|
7
|
10
|
5
|
0 |
0 |
0 |
22
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
4
|
0 |
2
|
2
|
6
|
0 |
14
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
1
|
9
|
0 |
0 |
0 |
11
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
10
|
10
|
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
3
|
4
|
0 |
0 |
0 |
0 |
7
|
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
|
Genetic Services Laboratory, University of Chicago
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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