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 |
|
541
|
161
|
2064
|
1524
|
1143
|
13
|
4690
|
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
|
471
|
148
|
2047
|
1374
|
748
|
13
|
4049
|
|
CTNNA1
|
65
|
12
|
6
|
147
|
391
|
0 |
620
|
|
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
|
|
RAD54L
|
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
|
296
|
48
|
1811
|
1226
|
71
|
0 |
3452
|
|
Myriad Genetics, Inc.
|
287
|
90
|
85
|
426
|
1065
|
0 |
1953
|
|
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 |
41
|
19
|
39
|
0 |
99
|
|
Mendelics
|
3
|
2
|
27
|
19
|
15
|
0 |
66
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
1
|
10
|
0 |
28
|
0 |
40
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
2
|
2
|
8
|
15
|
0 |
0 |
27
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
21
|
3
|
3
|
0 |
27
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
16
|
6
|
0 |
0 |
0 |
0 |
22
|
|
Molecular Pathology, Peter Maccallum Cancer Centre
|
5
|
0 |
8
|
3
|
0 |
0 |
16
|
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
16
|
|
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
|
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
2
|
4
|
0 |
0 |
0 |
0 |
6
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
2
|
1
|
0 |
0 |
5
|
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
1
|
0 |
3
|
0 |
0 |
4
|
|
CSER _CC_NCGL, University of Washington
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Genesis Genomics
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
|
GenomeConnect - No Stomach For Cancer
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
|
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Immunopatologia e Biomarcatori Oncologici/Bio-proteomics facility, Centro di Riferimento Oncologico
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Laboratório de Genética Humana e Médica, Universidade Federal do Pará
|
1
|
0 |
0 |
0 |
0 |
1
|
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
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
|
|
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clingen Gastric Cancer Variant Curation Expert Panel
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli
|
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
|
|
EVOGEN
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO)
|
1
|
0 |
0 |
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
|
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
1
|
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
|
|
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar
|
0 |
0 |
1
|
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
|
|
Variantyx, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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