ClinVar Miner

Variants in gene ERCC2

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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
160 173 1024 1091 85 62 2374

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 131 52 314 804 83 1 1335
Inborn genetic diseases 4 2 728 550 0 0 1284
Cerebrooculofacioskeletal syndrome 2 30 94 7 0 6 0 136
Xeroderma pigmentosum, group D 21 13 73 10 10 2 119
Xeroderma pigmentosum 13 12 31 28 4 0 88
not specified 0 0 38 9 13 38 88
Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 16 39 24 7 0 0 84
Trichothiodystrophy 1, photosensitive 14 6 19 0 6 0 45
ERCC2-related disorder 8 8 2 23 3 0 43
Ovarian serous cystadenocarcinoma 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 5 5
Malignant tumor of urinary bladder 4 0 0 0 0 1 5
Trichothiodystrophy 3 2 0 0 0 0 5
Melanoma 0 0 0 0 0 4 4
Ovarian cancer 0 3 0 0 1 0 4
Cervical cancer 0 0 0 0 0 3 3
Autosomal recessive ERCC2-related disorders 1 1 0 0 0 0 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Hereditary cancer-predisposing syndrome 1 1 0 0 0 0 2
Leukodystrophy 0 1 1 0 0 0 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Neoplasm 0 2 0 0 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Cerebrooculofacioskeletal syndrome 1 0 0 1 0 0 0 1
Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D 1 0 0 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Corpus callosum, agenesis of 1 0 0 0 0 0 1
Craniopharyngioma 0 1 0 0 0 0 1
Ewing sarcoma 0 1 0 0 0 0 1
Fetal anomalies with a likely genetic cause 1 0 0 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Hepatoblastoma 0 1 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hypotrichosis simplex 1 0 0 0 0 0 1
Inflammatory bowel disease 1 1 0 0 0 0 0 1
Ketotic hypoglycemia 0 0 1 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified 0 1 0 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Sarcoma 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1
Xeroderma pigmentosum, group C 0 0 1 0 0 0 1
Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 4 2 728 550 0 0 1284
Labcorp Genetics (formerly Invitae), Labcorp 116 38 269 759 45 0 1227
Baylor Genetics 30 92 19 0 0 0 140
GeneDx 19 8 38 26 42 0 133
Illumina Laboratory Services, Illumina 2 2 68 6 8 0 86
CeGaT Center for Human Genetics Tuebingen 13 5 16 46 1 0 81
Fulgent Genetics, Fulgent Genetics 14 37 20 5 0 0 76
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 12 35 4 0 0 67
Sema4, Sema4 1 2 31 28 4 0 66
Breakthrough Genomics, Breakthrough Genomics 0 1 2 11 33 0 47
PreventionGenetics, part of Exact Sciences 3 3 1 25 13 0 45
ITMI 0 0 0 0 0 38 38
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 4 1 22 1 0 0 28
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 24 24
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 5 5 8 0 19
OMIM 15 0 0 0 0 0 15
Revvity Omics, Revvity 3 1 8 0 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 8 1 0 0 11
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 1 3 3 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 1 0 4 0 8
Mendelics 3 0 2 2 1 0 8
Myriad Genetics, Inc. 3 5 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 0 4 0 7
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 5 0 7
Athena Diagnostics 0 0 1 0 5 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 2 1 0 0 0 6
3billion 1 1 2 1 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 3 2 0 0 5
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 3 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 0 0 4
Istituto di Genetica Molecolare, National Research Council of Italy 4 0 0 0 0 0 4
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 3 0 0 1 0 4
Laboratory of Urology, Hospital Clinic de Barcelona 4 0 0 0 0 0 4
Dasa 2 0 0 1 0 0 3
Eurofins Ntd Llc (ga) 1 1 1 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 3 0 0 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 2 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 1 1 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 2 0 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Clinical and Functional Genomics Group, A.C.Camargo Cancer Center 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 0 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 0 1

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