ClinVar Miner

Variants in gene CDH1

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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
181 90 1164 773 95 1 21 2065

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary cancer-predisposing syndrome 88 28 768 516 39 0 0 1379
Hereditary diffuse gastric cancer 114 61 725 154 35 0 1 1025
not provided 34 19 261 320 54 0 0 647
not specified 2 0 68 262 62 0 20 370
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 0 0 0 0 0 4
Neoplasm of stomach 0 2 1 0 0 0 0 3
Breast cancer, lobular 2 0 0 0 0 0 0 2
Endometrial carcinoma 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
Acute myeloid leukemia 0 0 1 0 0 0 0 1
Adenocarcinoma of stomach 0 0 1 0 0 0 0 1
Anophthalmia - microphthalmia 0 0 0 1 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma 0 0 1 0 0 0 0 1
Breast carcinoma 0 0 1 0 0 0 0 1
Colon cancer 0 0 1 0 0 0 0 1
Craniopharyngioma 0 0 1 0 0 0 0 1
Familial cancer of breast 0 0 1 0 0 0 0 1
Hereditary breast and ovarian cancer syndrome 0 0 1 0 0 0 0 1
Medulloblastoma 0 0 1 0 0 0 0 1
Mixed Phenotype Acute Leukemia with t(v;11q23.3); KMT2A Rearranged 0 0 1 0 0 0 0 1
Neoplasm of ovary 1 0 0 0 0 0 0 1
Neoplasm of the breast 0 0 0 1 0 0 0 1
Orofacial clefting 0 0 0 1 0 0 0 1
Papillary thyroid carcinoma 0 0 1 0 0 0 0 1
Prostate cancer, susceptibility to 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 81 26 665 334 38 0 0 1144
Ambry Genetics 78 22 650 349 27 0 0 1126
Color 15 5 310 278 22 0 0 630
GeneDx 26 12 217 240 47 0 0 542
Counsyl 4 8 91 41 2 0 0 146
Quest Diagnostics Nichols Institute San Juan Capistrano 10 7 66 37 30 0 0 146
Integrated Genetics/Laboratory Corporation of America 3 4 56 33 23 0 0 119
ClinGen CDH1 Variant Curation Expert Panel 37 26 16 16 20 0 0 115
Illumina Clinical Services Laboratory,Illumina 0 0 28 44 11 0 0 83
Mendelics 3 2 40 19 3 0 0 67
PreventionGenetics,PreventionGenetics 0 0 16 24 22 0 0 62
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 1 4 12 10 0 0 28
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 4 6 15 0 0 27
OMIM 25 0 0 0 0 1 0 26
ITMI 0 0 0 0 0 0 20 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 10 10 0 0 0 20
True Health Diagnostics 0 0 3 13 3 0 0 19
University of Washington Department of Laboratory Medicine, University of Washington 2 1 3 10 0 0 0 16
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
Genetic Services Laboratory, University of Chicago 0 0 2 7 0 0 0 9
Pathway Genomics 4 0 2 1 1 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
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 6 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
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
Department of Molecular Diagnostics,Institute of Oncology 1 2 0 0 0 0 0 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
3DMed Clinical Laboratory Inc 0 1 1 0 0 0 0 2
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 1 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 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

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