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 |
|
81
|
21
|
795
|
562
|
46
|
2
|
1480
|
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
WT1
|
59
|
18
|
368
|
340
|
32
|
1
|
804
|
|
LOC107982234, WT1
|
19
|
3
|
427
|
222
|
14
|
1
|
673
|
|
LOC106707172, LOC107982234, LOC130005479, WT1
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
72
|
11
|
742
|
557
|
37
|
0 |
1419
|
|
Fulgent Genetics, Fulgent Genetics
|
9
|
4
|
107
|
15
|
0 |
0 |
135
|
|
Baylor Genetics
|
1
|
0 |
82
|
0 |
0 |
0 |
83
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
18
|
0 |
18
|
|
Mendelics
|
3
|
1
|
6
|
3
|
1
|
0 |
14
|
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
|
Human Genetics Disease in Children – Taif University, Taif University
|
1
|
0 |
0 |
0 |
2
|
0 |
3
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Centre for Translational Omics - GOSgene, University College London
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics Munich, TUM University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
MVZ Dr. Eberhard & Partner Dortmund
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Medicine Center, Medical University of Sofia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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