ClinVar Miner

Variants studied for Fanconi anemia complementation group A

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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 not provided total
526 285 625 163 106 9 1546

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FANCA 371 214 450 107 68 9 1090
FANCA, ZNF276 65 37 107 11 20 0 219
FANCA, LOC112486223 14 10 18 3 3 0 40
FANCA, LOC130059837 14 12 9 3 0 0 30
​intergenic 24 0 0 0 0 0 24
AOPEP, FANCC 1 0 8 12 1 0 22
FANCA, LOC132090450 6 5 7 3 2 0 21
SLX4 2 2 11 2 2 0 19
FANCD2, LOC107303338 0 0 0 6 8 0 14
FANCC 1 0 2 8 1 0 12
ZNF469 9 0 0 0 0 0 9
FANCA, LOC132090445, ZNF276 3 2 1 0 0 0 6
FANCM 0 1 3 2 0 0 6
FANCA, LOC112486223, LOC130059839 4 1 0 0 0 0 5
FANCI 0 1 1 3 0 0 5
FANCL 2 0 2 1 0 0 5
FANCA, LOC130059837, LOC130059838 4 0 0 0 0 0 4
FANCD2, FANCD2OS 0 0 2 0 1 0 3
BRCA1 2 0 0 0 0 0 2
FANCG 0 0 2 0 0 0 2
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276 1 0 0 0 0 0 1
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 0 0 1 0 0 0 1
DMD, FANCA 1 0 0 0 0 0 1
FANCB 0 0 0 1 0 0 1
FANCD2 1 0 0 0 0 0 1
FANCL, VRK2 0 0 1 0 0 0 1
FANCM, LOC130055524 0 0 0 1 0 0 1
LOC112486220, ZNF469 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Leiden Open Variation Database 419 6 90 1 0 0 516
Fulgent Genetics, Fulgent Genetics 28 30 204 81 3 0 346
Baylor Genetics 117 108 40 0 0 0 265
Illumina Laboratory Services, Illumina 0 1 133 18 41 0 193
Counsyl 26 98 64 4 0 0 192
Natera, Inc. 19 1 114 16 39 0 189
Mendelics 7 5 36 38 13 0 99
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 18 42 0 61
Revvity Omics, Revvity 29 10 19 0 0 0 58
Genome-Nilou Lab 0 0 13 3 33 0 49
Myriad Genetics, Inc. 5 35 3 0 0 0 43
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 2 30 0 0 0 35
Neuberg Centre For Genomic Medicine, NCGM 8 7 8 0 0 0 23
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 6 10 0 0 0 0 16
OMIM 15 0 0 0 0 0 15
Istanbul Faculty of Medicine, Istanbul University 5 2 5 0 0 0 12
Genetic Services Laboratory, University of Chicago 6 3 0 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 5 2 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 3 1 0 0 7
3billion 7 0 0 0 0 0 7
GeneReviews 0 0 0 0 0 4 4
Department of Hematology, University of Health Sciences 0 2 0 2 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 0 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 2 0 2 0 0 0 4
Institute of Human Genetics, Cologne University 1 1 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 3 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Department of Pathology and Genetics, University of Gothenburg 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 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
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
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 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
Pars Genome Lab 0 0 0 0 1 0 1
International Fanconi Anemia Registry, The Rockefeller University 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1

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