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
1817 703 6642 6446 554 10 15501

Gene and significance breakdown #

Total genes and gene combinations: 64
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FANCA 741 340 1305 1720 119 9 3839
FANCM 143 22 1228 563 45 0 1999
SLX4 89 19 1095 641 81 0 1894
FANCI 116 52 679 799 62 0 1685
FANCD2, LOC107303338 78 33 337 446 46 0 921
FANCG 95 33 226 430 10 0 785
AOPEP, FANCC 71 26 316 346 17 0 762
FANCA, ZNF276 123 54 267 279 28 0 672
FANCL 64 30 210 263 22 0 575
FANCB 7 3 223 254 65 0 530
FANCC 74 13 144 178 8 0 413
FANCD2, FANCD2OS 30 20 147 198 8 0 397
FANCF 25 4 186 88 12 0 311
FANCA, LOC112486223 18 11 54 50 5 0 123
FANCA, LOC130059837 18 15 43 31 1 0 92
FANCD2 24 6 26 23 2 0 81
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 2 1 13 14 1 0 29
​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
FANCI, POLG 3 1 2 1 2 0 8
FANCG, VCP 0 0 2 4 6 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
CDK10, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 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
ACSF3, ANKRD11, APRT, BANP, CA5A, CBFA2T3, CDH15, CDK10, CDT1, CENPBD1, CHMP1A, CPNE7, CTU2, CYBA, DBNDD1, DEF8, DPEP1, FANCA, GALNS, GAS8, IL17C, JPH3, KLHDC4, LOC101927817, MC1R, MVD, PABPN1L, PIEZO1, RNF166, RPL13, SLC22A31, SLC7A5, SNAI3, SPATA2L, SPATA33, SPG7, SPIRE2, TCF25, TRAPPC2L, TUBB3, VPS9D1, ZC3H18, ZFPM1, ZNF276, ZNF469, ZNF778 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
CENPBD1, DBNDD1, DEF8, FANCA, GAS8, MC1R, SPIRE2, TCF25, TUBB3 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, TUBB3 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: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1404 352 6003 6231 495 0 14484
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
Baylor Genetics 142 142 41 0 0 0 325
Illumina Laboratory Services, Illumina 1 1 199 46 52 0 299
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 42 0 0 0 0 73
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 7 9 0 0 0 24
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 2 0 0 0 0 6
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
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
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
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
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
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
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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