ClinVar Miner

Variants studied for Fanconi anemia complementation group A

Coded as:
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Gene type:
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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
542 319 633 164 106 9 1597

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 385 244 456 108 68 9 1134
FANCA, ZNF276 67 40 110 11 20 0 226
FANCA, LOC112486223 14 10 18 3 3 0 40
FANCA, LOC130059837 14 13 9 3 0 0 31
​intergenic 24 0 0 0 0 0 24
AOPEP, FANCC 1 0 7 12 1 0 21
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: 68
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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 142 142 41 0 0 0 325
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 35 38 13 0 98
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 18 42 0 61
Revvity Omics, Revvity 29 10 19 0 0 0 58
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 5 2 46 0 0 0 53
Genome-Nilou Lab 0 0 13 3 33 0 49
Myriad Genetics, Inc. 5 35 3 0 0 0 43
Neuberg Centre For Genomic Medicine, NCGM 8 8 10 0 0 0 26
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 6 2 1 0 0 11
Genetic Services Laboratory, University of Chicago 6 3 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 2 0 0 0 7
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 2 0 0 0 0 6
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 3
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 3 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 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
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
Clinical Genomics Laboratory, 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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 0 0 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
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
Human Genetics Section, Sidra Medicine 1 0 0 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
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 1

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