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
157 69 997 640 89 1 21 1731

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 76 21 612 442 31 0 0 1127
Hereditary diffuse gastric cancer 85 41 605 294 47 0 1 1004
not provided 32 19 255 42 35 0 0 369
not specified 0 0 76 249 57 0 20 356
Familial cancer of breast; Ectropion inferior cleft lip and or palate; Endometrial carcinoma; Hereditary diffuse gastric cancer; Neoplasm of ovary; Malignant tumor of prostate 2 0 9 0 0 0 0 11
Ectropion inferior cleft lip and or palate 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: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 60 25 550 235 36 0 0 906
Ambry Genetics 66 15 475 269 19 0 0 844
Color 15 5 310 278 22 0 0 630
GeneDx 26 12 217 220 45 0 0 520
Counsyl 4 8 91 41 2 0 0 146
Integrated Genetics/Laboratory Corporation of America 3 4 76 16 20 0 0 119
Quest Diagnostics Nichols Institute San Juan Capistrano 6 7 43 27 23 0 0 102
Illumina Clinical Services Laboratory,Illumina 0 0 28 44 11 0 0 83
PreventionGenetics 0 0 16 24 22 0 0 62
ClinGen CDH1 Variant Curation Expert Panel 15 5 14 1 15 0 0 50
Mendelics 2 1 25 4 0 0 0 32
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 1 4 12 10 0 0 28
OMIM 25 0 0 0 0 1 0 26
ITMI 0 0 0 0 0 0 20 20
True Health Diagnostics 0 0 3 13 3 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 4 10 0 0 16
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 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 Medical Center 1 1 3 2 0 0 0 7
Biesecker Lab/Human Development 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 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
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
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
Immunopatologia e Biomarcatori Oncologici/Bio-proteomics facility,Centro di Riferimento Oncologico 1 0 0 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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