ClinVar Miner

Variants studied for CDH1-related diffuse gastric and lobular breast cancer syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
566 175 2093 1535 1150 21 4742

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDH1 495 162 2071 1385 755 21 4095
CTNNA1 65 12 6 147 391 0 620
CDH1, LOC130059290 2 1 10 3 4 0 17
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 1 0 0 0 0 0 1
RAD54L 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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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
Clingen Gastric Cancer Variant Curation Expert Panel 130 23 45 71 61 0 330
Counsyl 4 8 91 41 2 0 146
Illumina Laboratory Services, Illumina 0 0 41 19 39 0 99
Department of Pathology and Laboratory Medicine, Sinai Health System 8 4 44 42 0 0 98
Fulgent Genetics, Fulgent Genetics 7 4 45 10 2 0 68
Mendelics 3 2 27 19 15 0 66
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 1 10 0 28 0 40
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 13 13
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 4 2 0 0 0 8
Pathway Genomics 4 0 2 1 1 0 8
MGZ Medical Genetics Center 3 1 3 0 0 0 7
GenomeConnect - No Stomach For Cancer 0 0 0 0 0 5 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 1 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 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
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 1 0 0 0 1 0 2
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
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 1 0 0 0 2
King Laboratory, University of Washington 2 0 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
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 0 1 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 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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