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 |
risk factor |
other |
not provided |
total |
256
|
49
|
1551
|
922
|
140
|
3
|
6
|
5
|
2860
|
Gene and significance breakdown #
Total genes and gene combinations: 23
GPC3
|
45
|
9
|
454
|
309
|
69
|
0 |
0 |
0 |
865
|
WT1
|
55
|
18
|
419
|
354
|
40
|
0 |
0 |
4
|
861
|
LOC107982234, WT1
|
21
|
4
|
468
|
229
|
13
|
0 |
0 |
0 |
713
|
BRCA2
|
124
|
16
|
147
|
28
|
17
|
0 |
0 |
1
|
333
|
REST
|
0 |
0 |
51
|
2
|
0 |
3
|
0 |
0 |
56
|
TRIM28
|
1
|
0 |
8
|
0 |
0 |
0 |
0 |
0 |
9
|
CTNNB1, LOC126806658
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
2
|
H19, H19-ICR, MRPL23
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC106707172, LOC107982234, LOC130005479, WT1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC130065239, TRIM28
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
MED12
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
0 |
2
|
POU6F2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
BRAF
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CCDC160, GPC3, HPRT1, MIR106A, MIR19B2, PHF6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHEK2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CTNNB1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DIS3L2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FZD6
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GPC4
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
IGF2, INS-IGF2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SMAD4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
TET2
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Labcorp Genetics (formerly Invitae), Labcorp
|
109
|
19
|
1165
|
842
|
102
|
0 |
0 |
0 |
2237
|
Fulgent Genetics, Fulgent Genetics
|
115
|
11
|
334
|
58
|
18
|
0 |
0 |
0 |
536
|
All of Us Research Program, National Institutes of Health
|
0 |
2
|
173
|
100
|
4
|
0 |
0 |
0 |
279
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
72
|
14
|
25
|
0 |
0 |
0 |
111
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
7
|
1
|
32
|
0 |
0 |
0 |
0 |
0 |
40
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
21
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
31
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
18
|
0 |
0 |
0 |
18
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
16
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
3
|
10
|
0 |
0 |
0 |
13
|
Mendelics
|
0 |
0 |
11
|
0 |
1
|
0 |
0 |
0 |
12
|
Baylor Genetics
|
4
|
2
|
4
|
0 |
0 |
0 |
0 |
0 |
10
|
Color Diagnostics, LLC DBA Color Health
|
0 |
0 |
0 |
2
|
8
|
0 |
0 |
0 |
10
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
2
|
1
|
0 |
0 |
0 |
0 |
6
|
0 |
9
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric Oncology, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NPCF Sunshine Lab, H. Lee Moffitt Cancer Center and Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
3billion, Medical Genetics
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Laan Lab, Human Genetics Research Group, University of Tartu
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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