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 |
487
|
141
|
1875
|
1146
|
121
|
13
|
3538
|
Gene and significance breakdown #
Total genes and gene combinations: 7
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
CDH1
|
431
|
133
|
1864
|
1141
|
117
|
13
|
3457
|
CTNNA1
|
51
|
7
|
0 |
2
|
0 |
0 |
60
|
CDH1, LOC130059290
|
2
|
1
|
5
|
3
|
4
|
0 |
12
|
CDH1, LOC112486201, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128822933, LOC128849170, LOC130059290, LOC130059291, LOC130059292, LOC130059293, LOC130059294, LOC130059295, LOC130059296, LOC130059297, LOC130059298
|
3
|
0 |
2
|
0 |
0 |
0 |
5
|
CDH1, CDH3
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
CDH1, LOC128772407, LOC128849170
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KRAS
|
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
|
265
|
52
|
1622
|
1095
|
69
|
0 |
3103
|
Myriad Genetics, Inc.
|
262
|
78
|
87
|
17
|
19
|
0 |
463
|
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto
|
84
|
12
|
227
|
35
|
33
|
0 |
391
|
Counsyl
|
4
|
8
|
91
|
41
|
2
|
0 |
146
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
46
|
23
|
41
|
0 |
110
|
Mendelics
|
3
|
2
|
26
|
19
|
15
|
0 |
65
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
12
|
3
|
3
|
0 |
18
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
12
|
5
|
0 |
0 |
0 |
0 |
17
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
0 |
5
|
5
|
0 |
0 |
11
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
9
|
9
|
Pathway Genomics
|
4
|
0 |
2
|
1
|
1
|
0 |
8
|
MGZ Medical Genetics Center
|
3
|
1
|
3
|
0 |
0 |
0 |
7
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
2
|
1
|
0 |
0 |
5
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
CSER _CC_NCGL, University of Washington
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
GenomeConnect - No Stomach For Cancer
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Laboratório de Genética Humana e Médica, Universidade Federal do Pará
|
1
|
0 |
0 |
0 |
0 |
1
|
2
|
Immunopatologia e Biomarcatori Oncologici/Bio-proteomics facility, Centro di Riferimento Oncologico
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ClinGen CDH1 Variant Curation Expert Panel
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Division of Medical Genetics, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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