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 |
not provided |
total |
18
|
14
|
406
|
238
|
61
|
1
|
3
|
723
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
POLE
|
17
|
14
|
389
|
233
|
60
|
1
|
3
|
699
|
LOC130009266, POLE
|
0 |
0 |
16
|
5
|
1
|
0 |
0 |
22
|
ANKLE2, CHFR, GOLGA3, PGAM5, POLE, PXMP2, ZNF140, ZNF26, ZNF605, ZNF84
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DDX51, EP400, FBRSL1, LRCOL1, MUC8, NOC4L, P2RX2, POLE, PUS1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
17
|
10
|
178
|
118
|
1
|
0 |
0 |
324
|
Counsyl
|
0 |
1
|
67
|
71
|
12
|
0 |
0 |
151
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
1
|
5
|
25
|
56
|
0 |
0 |
87
|
Baylor Genetics
|
0 |
0 |
67
|
0 |
0 |
0 |
0 |
67
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
54
|
0 |
0 |
0 |
0 |
54
|
Mendelics
|
0 |
0 |
21
|
27
|
1
|
0 |
0 |
49
|
MGZ Medical Genetics Center
|
0 |
0 |
17
|
0 |
0 |
0 |
0 |
17
|
Myriad Genetics, Inc.
|
0 |
0 |
15
|
1
|
1
|
0 |
0 |
17
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
8
|
0 |
0 |
0 |
0 |
8
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
0 |
6
|
1
|
0 |
0 |
7
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Molecular Oncology Laboratory, Hospital Clínico San Carlos
|
0 |
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Division of Medical Genetics, University of Washington
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
OMIM
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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