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 |
|
583
|
125
|
2963
|
2141
|
158
|
8
|
5847
|
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 |
|
DICER1
|
583
|
124
|
2958
|
2141
|
155
|
8
|
5838
|
|
DICER1, LOC130056358
|
0 |
0 |
4
|
0 |
3
|
0 |
7
|
|
ASB2, BTBD7, COX8C, DDX24, DICER1, FAM181A, GSC, IFI27, IFI27L1, IFI27L2, OTUB2, PPP4R4, PRIMA1, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, UBR7, UNC79
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
DICER1, GSC, SERPINA3
|
0 |
0 |
1
|
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
|
384
|
54
|
2868
|
2108
|
113
|
0 |
5527
|
|
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
|
242
|
17
|
1
|
0 |
0 |
0 |
260
|
|
ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen
|
16
|
24
|
90
|
44
|
12
|
0 |
186
|
|
Illumina Laboratory Services, Illumina
|
0 |
2
|
72
|
15
|
70
|
0 |
159
|
|
International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota
|
82
|
0 |
1
|
0 |
0 |
0 |
83
|
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
12
|
31
|
6
|
0 |
0 |
0 |
49
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
3
|
1
|
3
|
3
|
7
|
0 |
17
|
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
9
|
5
|
2
|
0 |
0 |
0 |
16
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
2
|
0 |
9
|
2
|
1
|
0 |
14
|
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
8
|
0 |
1
|
1
|
0 |
0 |
10
|
|
Molecular Pathology, Peter Maccallum Cancer Centre
|
5
|
1
|
1
|
0 |
0 |
0 |
7
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
|
Mendelics
|
0 |
0 |
1
|
4
|
1
|
0 |
6
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
|
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Baylor Genetics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Helix
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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