ClinVar Miner

Variants in gene FANCA

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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 not provided total
698 322 1433 1801 246 55 4050

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 438 122 1094 1698 97 0 3340
Fanconi anemia complementation group A 368 212 448 107 68 9 1086
not provided 46 18 215 145 168 1 574
not specified 1 0 84 55 55 45 201
Inborn genetic diseases 1 1 37 3 2 0 44
FANCA-related condition 3 6 23 0 0 0 32
Ovarian cancer 0 2 0 0 6 0 8
See cases 2 1 0 0 0 0 3
Abnormality of blood and blood-forming tissues 1 1 0 0 0 0 2
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 0 2 0 0 0 2
Hepatoblastoma 0 1 0 0 0 0 1
Malignant tumor of breast 0 0 0 0 1 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Neuroblastoma 0 0 1 0 0 0 1
Neurodevelopmental disorder 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

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 416 105 1000 1669 95 0 3285
Natera, Inc. 36 5 328 40 35 0 444
Leiden Open Variation Database 295 4 74 1 0 0 374
GeneDx 18 5 45 68 158 0 294
Fulgent Genetics, Fulgent Genetics 18 22 170 71 3 0 284
Quest Diagnostics Nichols Institute San Juan Capistrano 7 0 110 56 29 0 202
Baylor Genetics 85 80 30 0 0 0 195
Counsyl 20 73 44 3 0 0 140
Genetic Services Laboratory, University of Chicago 14 6 64 39 11 0 134
Illumina Laboratory Services, Illumina 1 0 89 13 24 0 127
Sema4, Sema4 3 5 54 46 10 0 118
Preventiongenetics, part of Exact Sciences 3 6 23 15 36 0 83
CeGaT Center for Human Genetics Tuebingen 11 4 18 32 2 0 67
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 17 37 0 54
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 11 12 5 7 0 47
ITMI 0 0 0 0 0 45 45
Ambry Genetics 1 1 37 3 2 0 44
Genome-Nilou Lab 0 0 9 3 29 0 41
Revvity Omics, Revvity Omics 20 5 14 0 0 0 39
Myriad Genetics, Inc. 1 34 1 0 0 0 36
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 2 30 0 0 0 35
Mayo Clinic Laboratories, Mayo Clinic 1 1 32 0 0 0 34
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 3 0 14 0 18
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 4 5 6 0 0 0 15
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 5 8 0 0 0 0 13
Mendelics 2 0 7 2 1 0 12
OMIM 11 0 0 0 0 0 11
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 4 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 3 0 0 0 6
Eurofins Ntd Llc (ga) 1 0 2 1 1 0 5
3billion 5 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 1 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 0 2 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 1 1 1 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 1 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 1 0 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
Department of Hematology, University of Health Sciences 0 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Molecular Genetics and Enzymology, National Research Centre 1 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Department of Pathology and Genetics, University of Gothenburg 0 1 1 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
Human Developmental Genetics, Institut Pasteur 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 1 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1

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