ClinVar Miner

Variants in gene FANCA

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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
803 458 2488 2199 252 121 5625

Condition and significance breakdown #

Total conditions: 50
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 534 200 1276 1836 97 0 3787
Inborn genetic diseases 1 1 1188 752 2 0 1944
Fanconi anemia complementation group A 406 299 647 122 79 10 1393
not provided 69 28 404 217 171 1 855
not specified 1 0 103 63 62 45 229
FANCA-related disorder 8 10 53 91 2 0 164
Ovarian serous cystadenocarcinoma 0 0 0 0 0 20 20
Uterine corpus endometrial carcinoma 0 0 0 0 0 9 9
Acute myeloid leukemia 0 0 0 0 0 8 8
Gastric cancer 0 0 0 0 0 8 8
Ovarian cancer 0 2 0 0 6 0 8
Sarcoma 0 0 0 0 0 8 8
Thymoma 0 0 0 0 0 8 8
Cervical cancer 0 0 0 0 0 7 7
Malignant tumor of esophagus 0 0 0 0 0 6 6
Uterine carcinosarcoma 0 0 0 0 0 6 6
Cholangiocarcinoma 0 0 0 0 0 5 5
Colon adenocarcinoma 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 5 5
Lung cancer 0 0 0 0 0 5 5
Hepatocellular carcinoma 0 0 0 0 0 4 4
Hereditary cancer-predisposing syndrome 1 0 0 2 1 0 4
Melanoma 0 0 0 0 0 4 4
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Colorectal cancer 0 0 0 0 0 3 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
See cases 2 1 0 0 0 0 3
Abnormality of blood and blood-forming tissues 1 1 0 0 0 0 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 2 2
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 0 2 0 0 0 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Uveal melanoma 0 0 0 0 0 2 2
Congenital portosystemic shunt 0 0 1 0 0 0 1
Germ cell tumor of testis 0 0 0 0 0 1 1
Hepatoblastoma 0 1 0 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Malignant tumor of breast 0 0 0 0 1 0 1
Monogenic short statue 0 0 1 0 0 0 1
Neoplasm 0 1 0 0 0 0 1
Neuroblastoma 0 0 1 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Pediatric high-grade glioma 0 0 1 0 0 0 1
Pituitary stalk interruption syndrome 1 0 0 0 0 0 1
Premature ovarian failure 0 1 0 0 0 0 1
Prostate cancer 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 114
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 488 116 1091 1806 95 0 3596
Ambry Genetics 1 1 1188 752 2 0 1944
Natera, Inc. 84 74 434 42 35 0 669
Fulgent Genetics, Fulgent Genetics 41 85 381 75 3 0 585
Quest Diagnostics Nichols Institute San Juan Capistrano 14 3 296 91 36 0 440
Leiden Open Variation Database 295 4 74 1 0 0 374
GeneDx 23 6 60 69 158 0 316
Baylor Genetics 107 109 31 0 0 0 247
PreventionGenetics, part of Exact Sciences 8 10 53 106 38 0 215
Breakthrough Genomics, Breakthrough Genomics 0 0 6 44 97 0 147
Counsyl 20 73 44 3 0 0 140
Genetic Services Laboratory, University of Chicago 14 7 66 39 11 0 137
Illumina Laboratory Services, Illumina 2 0 86 13 24 0 125
Sema4, Sema4 3 5 54 46 10 0 118
CeGaT Center for Human Genetics Tuebingen 17 6 24 66 4 0 117
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 27 15 33 8 7 0 90
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 8 2 64 0 0 0 74
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 70 70
Mayo Clinic Laboratories, Mayo Clinic 2 1 40 5 18 0 66
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 17 40 0 57
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 5 12 29 0 47
Myriad Genetics, Inc. 8 39 0 0 0 0 47
ITMI 0 0 0 0 0 45 45
Revvity Omics, Revvity 22 8 15 0 0 0 45
GeneKor MSA 6 5 0 0 32 0 43
Genome-Nilou Lab 0 0 9 3 29 0 41
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 3 26 2 0 0 33
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 12 2 9 0 0 0 23
Neuberg Centre For Genomic Medicine, NCGM 4 6 7 0 0 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 5 3 3 1 0 16
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 6 8 0 0 0 0 14
Mendelics 2 0 6 3 1 0 12
Dasa 8 1 0 1 1 0 11
OMIM 11 0 0 0 0 0 11
3billion 7 2 1 0 0 0 10
Istanbul Faculty of Medicine, Istanbul University 4 2 4 0 0 0 10
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 2 0 0 6 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 3 0 0 0 7
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 2 2 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 3 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 4 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 1 0 0 0 6
Eurofins Ntd Llc (ga) 1 0 2 1 1 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 3 1 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 0 0 4
GeneReviews 0 0 0 0 0 4 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 1 1 1 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 2 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 1 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 1 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 1 0 3
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 1 0 0 1 1 0 3
Clinical Immunology, Karolinska University Hospital 1 1 0 0 0 0 2
Department of Hematology, University of Health Sciences 0 2 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 2 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Department of Pathology and Genetics, University of Gothenburg 0 1 1 0 0 0 1
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 0 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Human Developmental Genetics, Institut Pasteur 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 1 0 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 1
Molecular Genetics and Enzymology, National Research Centre 1 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 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
NHS Central & South Genomic Laboratory Hub 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1

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