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 |
1344
|
304
|
444
|
171
|
199
|
11
|
2399
|
Gene and significance breakdown #
Total genes and gene combinations: 26
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
MLH1
|
527
|
120
|
86
|
40
|
55
|
0 |
806
|
MSH2
|
513
|
98
|
106
|
42
|
51
|
4
|
790
|
MSH6
|
203
|
55
|
156
|
57
|
47
|
5
|
505
|
PMS2
|
83
|
33
|
67
|
16
|
36
|
2
|
227
|
EPCAM
|
4
|
0 |
16
|
4
|
0 |
0 |
24
|
MLH3
|
0 |
0 |
6
|
1
|
0 |
0 |
7
|
EIF2B2, MLH3
|
0 |
0 |
0 |
6
|
0 |
0 |
6
|
LOC129933695, MSH2
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
LOC129933706, MSH6
|
0 |
0 |
1
|
1
|
3
|
0 |
4
|
AIMP2, PMS2
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
EPCAM, MIR559
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
LOC129997916, PMS2
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
EPM2AIP1, MLH1
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
FBXO11, MSH6
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
LOC129933705, LOC129933706, LOC129933707, LOC129933708, MSH6
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
LOC129933706, LOC129933707, LOC129933708, MSH6
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
LOC129933707, MSH6
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
EPCAM, STPG4
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
EPM2AIP1, LOC115995508, LOC129936464, LOC129936465, LOC129936466, LOC129936467, LOC129936468, LOC129936469, LOC129936470, LOC129936471, MLH1, TRANK1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FBXO11, LOC129933706, LOC129933707, LOC129933708, MSH6
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC129933706, LOC129933707, MSH6
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC129933707, LOC129933708, MSH6
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC129936471, MLH1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LRRFIP2, MLH1
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ORMDL1, PMS1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
TGFBR2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
|
1160
|
173
|
23
|
89
|
173
|
0 |
1618
|
University of Washington Department of Laboratory Medicine, University of Washington
|
53
|
27
|
125
|
41
|
6
|
0 |
252
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
81
|
69
|
7
|
2
|
47
|
0 |
206
|
Mendelics
|
15
|
10
|
139
|
8
|
2
|
0 |
174
|
Invitae
|
88
|
8
|
42
|
6
|
0 |
0 |
144
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
64
|
7
|
40
|
14
|
4
|
0 |
128
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
60
|
15
|
0 |
0 |
0 |
1
|
76
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
31
|
14
|
0 |
0 |
45
|
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center
|
26
|
1
|
5
|
0 |
0 |
0 |
32
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
16
|
2
|
13
|
0 |
31
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
0 |
26
|
3
|
1
|
0 |
31
|
CSER _CC_NCGL, University of Washington
|
1
|
3
|
8
|
3
|
1
|
0 |
16
|
Genetics and Molecular Pathology, SA Pathology
|
5
|
5
|
0 |
0 |
0 |
0 |
10
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
9
|
9
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Service de Génétique Médicale, Institut Central des Hôpitaux
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
DASA
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Human Anatomy, Histology and Embryology;Department of Pathology, Peking University Health Science Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
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