ClinVar Miner

Variants studied for Fanconi anemia complementation group A

Included ClinVar conditions (3):
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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
1717 659 6632 6446 554 10 15361

Gene and significance breakdown #

Total genes and gene combinations: 60
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FANCA 688 309 1303 1720 119 9 3765
FANCM 143 20 1227 563 45 0 1996
SLX4 89 19 1095 641 81 0 1894
FANCI 108 50 679 799 62 0 1675
FANCD2, LOC107303338 78 32 337 446 46 0 920
FANCG 95 33 226 430 10 0 785
AOPEP, FANCC 71 26 316 346 17 0 762
FANCA, ZNF276 111 50 266 279 28 0 657
FANCL 59 30 210 263 22 0 570
FANCB 7 3 222 254 65 0 529
FANCC 70 13 141 178 8 0 406
FANCD2, FANCD2OS 29 20 147 198 8 0 396
FANCF 24 4 186 88 12 0 310
FANCA, LOC112486223 18 11 54 50 5 0 123
FANCA, LOC130059837 18 13 43 31 1 0 90
FANCD2 14 5 26 23 2 0 70
FANCA, LOC132090450 11 8 13 32 2 0 61
FANCI, POLG, POLGARF 1 0 20 24 6 0 51
FANCF, LOC130005443 0 0 22 11 1 0 34
FANCE 1 1 17 8 3 0 30
FANCL, VRK2 1 0 12 14 1 0 26
​intergenic 24 0 0 0 0 0 24
BRIP1 1 2 16 3 0 0 22
BRCA2 3 0 10 7 1 0 21
FANCM, LOC130055524 1 0 12 9 0 0 21
FANCA, LOC132090445, ZNF276 4 2 3 11 0 0 18
FANCF, LOC130005444 0 0 9 4 1 0 14
FANCA, LOC130059837, LOC130059838 11 1 0 0 0 0 12
FANCA, LOC112486223, LOC130059839 9 1 1 0 0 0 11
FANCE, LOC129996245 0 2 5 3 0 0 10
ZNF469 9 0 0 0 0 0 9
FANCG, VCP 0 0 2 4 6 0 7
FANCI, POLG 2 1 2 1 2 0 7
RAD51C 0 0 0 4 0 0 4
FANCA, SPIRE2 2 0 1 0 0 0 3
PALB2 0 0 1 1 0 1 3
AOPEP, FANCC, LOC100507346, LOC105376156, LOC110121043, LOC124310595, LOC124310596, LOC124310597, LOC124310598, LOC124310599, LOC124310600, LOC130002126, LOC130002127, LOC130002128, LOC130002129, LOC130002130, LOC130002131, LOC130002132, LOC130002133, LOC132089731, LOC132089732, LOC132089733, PTCH1 1 0 1 0 0 0 2
BRCA1 2 0 0 0 0 0 2
FANCA, LOC130059837, LOC130059838, LOC132090450 0 2 0 0 0 0 2
ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2 0 0 1 0 0 0 1
ANKRD11, CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276 0 0 1 0 0 0 1
BRCA2, LOC106721785 0 0 0 1 0 0 1
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, LOC129936148, LOC129936149, VHL 1 0 0 0 0 0 1
BRK1, FANCD2, FANCD2OS, VHL 1 0 0 0 0 0 1
C14orf28, FANCM, FKBP3, FSCB, KLHL28, PRPF39, TOGARAM1 1 0 0 0 0 0 1
CDK10, CENPBD1, CHMP1A, CPNE7, DBNDD1, DEF8, DPEP1, FANCA, GAS8, MC1R, RPL13, SPATA2L, SPATA33, SPG7, SPIRE2, TCF25, TUBB3, VPS9D1, ZNF276 0 0 1 0 0 0 1
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
CDK10, CHMP1A, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 1 0 0 0 0 0 1
DMD, FANCA 1 0 0 0 0 0 1
FANCA, LOC112486223, LOC125177396, LOC126862451, LOC128772421, LOC130059837, LOC130059838, LOC130059839, LOC130059840, LOC130059841, LOC130059842, LOC130059843, LOC130059844, LOC130059845, LOC130059846, LOC132090451, LOC132090890, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 1
FANCA, LOC112486223, LOC129390817, LOC130059837, LOC130059838, LOC130059839, LOC132090445, LOC132090446, LOC132090447, LOC132090448, LOC132090449, LOC132090450, ZNF276 1 0 0 0 0 0 1
FANCA, LOC112486223, LOC130059837, LOC130059838, LOC130059839 1 0 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, ZNF276 1 0 0 0 0 0 1
FANCC, PTCH1 0 0 1 0 0 0 1
FANCF, LOC130005443, LOC130005444 0 0 1 0 0 0 1
FANCL, LOC129388866, LOC129933782, VRK2 1 0 0 0 0 0 1
FANCL, LOC129388866, VRK2 0 1 0 0 0 0 1
LOC112486220, ZNF469 1 0 0 0 0 0 1
LOC130058346, SLX4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1313 339 5995 6231 495 0 14372
Natera, Inc. 56 14 539 85 53 0 747
Sema4, Sema4 10 20 339 274 46 0 689
Leiden Open Variation Database 419 6 90 1 0 0 516
Fulgent Genetics, Fulgent Genetics 28 30 204 81 3 0 346
Illumina Laboratory Services, Illumina 1 1 199 46 52 0 299
Baylor Genetics 117 108 40 0 0 0 265
Counsyl 26 98 64 4 0 0 192
Mendelics 7 5 36 38 13 0 99
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 41 0 0 0 0 72
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 4 2 49 0 0 0 55
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 24 5 26 0 0 0 55
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 6 8 0 0 0 22
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 9 0 0 0 0 17
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 2 1 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Department of Hematology, University of Health Sciences 0 2 0 2 0 0 4
Molecular Genetics and Enzymology, National Research Centre 4 0 0 0 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, ClinGen 0 0 0 0 0 3 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
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 0 0 0 0 0 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
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 2
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
Reproductive Health Research and Development, BGI Genomics 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
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1

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