ClinVar Miner

Variants in gene CDH1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 risk factor not provided total
250 133 1560 888 129 1 25 2634

Condition and significance breakdown #

Total conditions: 31
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary diffuse gastric cancer 194 93 1147 461 84 0 3 1860
Hereditary cancer-predisposing syndrome 92 32 879 597 40 0 0 1571
not provided 42 24 283 183 36 0 1 541
not specified 1 0 98 274 75 0 20 413
Malignant tumor of breast 2 0 26 28 7 0 0 63
none provided 1 0 1 4 16 0 0 22
Familial cancer of breast 2 3 7 1 0 0 0 13
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric cancer; Neoplasm of ovary; Malignant tumor of prostate 2 0 9 0 0 0 0 11
Blepharocheilodontic syndrome 1 4 0 5 0 0 0 0 9
Hereditary breast and ovarian cancer syndrome 0 0 8 1 0 0 0 9
Cleft lip with or without cleft palate 0 6 0 0 0 0 0 6
Endometrial carcinoma 2 0 2 0 0 0 0 4
Carcinoma of colon 0 0 3 0 0 0 0 3
Neoplasm of stomach 0 2 1 0 0 0 0 3
Breast cancer, lobular 2 0 0 0 0 0 0 2
Cleft lip/palate 0 0 2 0 0 0 0 2
Familial cancer of breast; Hereditary diffuse gastric cancer 2 0 0 0 0 0 0 2
Gastric cancer, familial diffuse, and cleft lip with or without cleft palate 2 0 0 0 0 0 0 2
Inborn genetic diseases 0 0 2 0 0 0 0 2
Adenocarcinoma of stomach 0 0 1 0 0 0 0 1
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma 0 0 1 0 0 0 0 1
Breast and/or ovarian cancer 0 0 0 1 0 0 0 1
Breast carcinoma 0 0 1 0 0 0 0 1
Breast neoplasm 0 0 0 1 0 0 0 1
Colorectal cancer 1 0 0 0 0 0 0 1
Hereditary diffuse gastric cancer; Breast cancer, lobular 0 0 0 0 0 0 1 1
Malignant tumor of colon 0 0 1 0 0 0 0 1
Neoplasm of ovary 1 0 0 0 0 0 0 1
Orofacial cleft 0 0 0 1 0 0 0 1
Prostate cancer, susceptibility to 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 61
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 153 33 1054 455 48 0 0 1743
Ambry Genetics 79 21 634 367 27 0 0 1128
Color Health, Inc 21 11 493 378 23 0 0 926
GeneDx 26 12 217 240 47 0 0 542
ClinGen CDH1 Variant Curation Expert Panel 68 55 32 27 51 0 0 233
Integrated Genetics/Laboratory Corporation of America 4 7 88 50 35 0 0 184
Quest Diagnostics Nichols Institute San Juan Capistrano 13 10 80 43 35 0 0 177
Counsyl 4 8 91 41 2 0 0 146
Illumina Clinical Services Laboratory,Illumina 0 0 46 23 41 0 0 110
Department of Pathology and Laboratory Medicine,Sinai Health System 4 2 51 41 11 0 0 109
Mendelics 3 2 40 19 3 0 0 67
PreventionGenetics, PreventionGenetics 0 0 16 24 22 0 0 62
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 5 10 19 0 0 36
Mayo Clinic Laboratories, Mayo Clinic 1 1 4 12 10 0 0 28
OMIM 25 0 0 0 0 1 0 26
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 12 10 0 0 0 24
ITMI 0 0 0 0 0 0 20 20
True Health Diagnostics 0 0 3 13 3 0 0 19
University of Washington Department of Laboratory Medicine, University of Washington 2 1 4 10 0 0 0 17
GeneKor MSA 0 0 13 0 0 0 0 13
Fulgent Genetics,Fulgent Genetics 2 0 9 0 0 0 0 11
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 0 7 0 0 10
University of Washington Center for Mendelian Genomics, University of Washington 0 6 4 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 0 0 2 7 0 0 0 9
Pathway Genomics 4 0 2 1 1 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 0 0 7 1 0 0 0 8
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 4 2 2 0 0 8
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 0 7 1 0 0 0 8
CSER _CC_NCGL, University of Washington 1 1 3 2 0 0 0 7
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 5 0 1 0 0 6
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 3 3 0 0 0 0 0 6
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 1 4 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 3 0 0 4
King Laboratory,University of Washington 2 0 0 0 2 0 0 4
Baylor Genetics 0 0 3 0 0 0 0 3
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 3 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 0 3
Vantari Genetics 0 0 1 0 2 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 0 3
GenomeConnect - No Stomach For Cancer 0 0 0 0 0 0 3 3
Laboratório de Genética Humana e Médica, Universidade Federal do Pará 1 0 0 0 0 0 1 2
Immunopatologia e Biomarcatori Oncologici/Bio-proteomics facility,Centro di Riferimento Oncologico 2 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
3DMed Clinical Laboratory Inc 0 1 1 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory,University of Pittsburgh Medical Center 0 0 2 0 0 0 0 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 1 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO) 1 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 0 0 1 0 0 0 0 1
Pediatric Oncology, Johns Hopkins University 0 0 0 1 0 0 0 1
Genomic Center,National Cancer Institute 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.