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 |
826
|
315
|
542
|
190
|
108
|
52
|
1817
|
Gene and significance breakdown #
Total genes and gene combinations: 17
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
MSH2
|
763
|
260
|
489
|
173
|
86
|
13
|
1578
|
MLH1
|
40
|
33
|
21
|
5
|
10
|
23
|
128
|
MSH6
|
10
|
12
|
12
|
6
|
3
|
8
|
50
|
PMS2
|
6
|
5
|
12
|
3
|
8
|
6
|
36
|
EPCAM
|
0 |
1
|
5
|
0 |
1
|
1
|
8
|
BCYRN1, EPCAM, MSH2
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
KCNK12, MSH2
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
LOC129933695, MSH2
|
2
|
0 |
0 |
0 |
0 |
1
|
2
|
PALB2
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
PMS1
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
AIMP2, CCZ1, EIF2AK1, OCM, PMS2, RSPH10B
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ATM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
BCYRN1, EPCAM, KCNK12, MSH2, MSH2-OT1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CHEK2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MLH3
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
MUTYH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
RAD51D, RAD51L3-RFFL
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Myriad Genetics, Inc.
|
694
|
185
|
61
|
67
|
44
|
0 |
1051
|
Baylor Genetics
|
59
|
35
|
257
|
0 |
0 |
0 |
351
|
Counsyl
|
19
|
6
|
137
|
52
|
0 |
0 |
214
|
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
|
37
|
24
|
15
|
11
|
9
|
0 |
96
|
Mendelics
|
11
|
5
|
30
|
25
|
21
|
0 |
92
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
64
|
22
|
5
|
0 |
91
|
Fulgent Genetics, Fulgent Genetics
|
7
|
3
|
36
|
12
|
2
|
0 |
60
|
Pathway Genomics
|
10
|
4
|
15
|
8
|
23
|
0 |
60
|
Ding PR Lab, Sun Yat-sen University Cancer Center
|
9
|
14
|
29
|
0 |
0 |
0 |
52
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
49
|
50
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
6
|
2
|
4
|
17
|
20
|
0 |
49
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
13
|
11
|
0 |
0 |
0 |
0 |
24
|
OMIM
|
18
|
0 |
0 |
0 |
0 |
0 |
18
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
3
|
0 |
0 |
4
|
11
|
0 |
18
|
Human Genetics Bochum, Ruhr University Bochum
|
8
|
5
|
2
|
1
|
0 |
0 |
16
|
MGZ Medical Genetics Center
|
5
|
3
|
7
|
0 |
0 |
0 |
15
|
Genetics and Personalized Medicine Clinic, Tartu University Hospital
|
2
|
13
|
0 |
0 |
0 |
0 |
15
|
Genetics and Molecular Pathology, SA Pathology
|
10
|
2
|
2
|
1
|
0 |
0 |
15
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
1
|
4
|
9
|
0 |
15
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
15
|
0 |
0 |
0 |
15
|
Institute of Human Genetics, University of Leipzig Medical Center
|
6
|
3
|
2
|
1
|
1
|
0 |
13
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
1
|
0 |
10
|
1
|
0 |
0 |
12
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
7
|
0 |
1
|
0 |
10
|
Neuberg Centre For Genomic Medicine, NCGM
|
3
|
3
|
4
|
0 |
0 |
0 |
10
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
2
|
0 |
0 |
2
|
5
|
0 |
9
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
3
|
2
|
4
|
0 |
0 |
0 |
9
|
Division of Medical Genetics, University of Washington
|
1
|
0 |
7
|
0 |
0 |
0 |
8
|
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)
|
6
|
1
|
1
|
0 |
0 |
0 |
8
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
2
|
0 |
5
|
0 |
0 |
0 |
7
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
University of Washington Department of Laboratory Medicine, University of Washington
|
1
|
4
|
0 |
0 |
0 |
0 |
5
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
deCODE genetics, Amgen
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
IntelligeneCG
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laan Lab, Human Genetics Research Group, University of Tartu
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Cancer Genome Medicine, Jichi Medical University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenePathDx, GenePath diagnostics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Cancer Genetics and Family Consultants, Athens Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Biologie des Tumeurs Solides, CHU de Montpellier
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MNM Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kids Neuroscience Centre, Sydney Children's Hospitals Network
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetica Molecular, Fundacion para el Progreso de la Medicina
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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