ClinVar Miner

Variants studied for Fanconi anemia

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
3354 1874 13684 10024 876 97 28191

Gene and significance breakdown #

Total genes and gene combinations: 93
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRIP1 480 179 2596 1337 64 6 4524
FANCA 791 433 1589 1858 125 10 4334
SLX4 119 57 1445 809 99 4 2411
FANCM 159 27 1392 683 50 0 2307
FANCI 163 184 926 927 71 4 2143
RAD51C 180 77 843 443 18 3 1523
FANCD2, LOC107303338 111 119 519 538 61 2 1249
FANCG 128 129 372 486 22 5 1048
AOPEP, FANCC 101 121 464 393 30 5 1005
FANCA, ZNF276 131 61 325 297 27 2 753
FANCL 77 80 275 309 31 1 725
FANCB 26 6 350 283 71 0 691
ERCC4 35 20 366 251 27 1 674
FANCE 41 45 299 277 23 1 632
BRCA2 174 27 260 86 35 32 595
FANCD2, FANCD2OS 42 50 229 230 15 0 537
FANCC 93 81 198 196 12 6 522
FANCF 39 28 268 97 22 0 431
BRCA1 149 28 139 83 23 1 415
PALB2 54 23 245 64 8 13 394
FANCE, LOC129996245 9 13 82 53 2 0 149
FANCA, LOC112486223 21 15 61 53 5 0 135
LOC129390903, RAD51C 22 2 73 35 0 1 130
FANCD2 31 10 36 28 3 0 103
FANCA, LOC130059837 20 16 50 32 1 0 101
ERCC4, LOC130058543 4 0 41 22 1 0 68
BRCA1, LOC126862571 21 0 27 15 4 0 67
FANCI, POLG 6 1 30 23 8 0 67
FANCA, LOC132090450 12 11 17 34 2 0 65
FANCF, LOC130005443 0 2 35 11 2 0 48
FANCL, VRK2 3 2 22 17 2 0 41
XRCC2 0 6 25 3 4 0 35
LOC130061310, RAD51C 2 2 9 20 0 0 31
​intergenic 24 0 1 0 0 0 25
FANCA, LOC132090445, ZNF276 4 2 4 14 0 0 22
FANCM, LOC130055524 1 0 12 9 0 0 21
FANCF, LOC130005444 0 1 11 4 1 0 17
RFWD3 2 1 9 2 3 0 17
FANCA, LOC130059837, LOC130059838 11 1 0 0 0 0 12
FANCA, LOC112486223, LOC130059839 9 1 1 0 0 0 11
RAD51 2 5 2 0 0 0 9
ZNF469 9 0 0 0 0 0 9
BRIP1, LOC130061360 4 0 4 0 0 0 8
UBE2T 4 1 1 0 2 0 8
BRCA2, LOC106721785 0 1 3 1 1 0 6
LOC129390903, LOC130061310, LOC130061311, RAD51C 3 0 3 0 0 0 6
BRIP1, LOC110120932, LOC130061360 1 0 4 0 0 0 5
FAAP100 3 1 0 0 0 0 4
LOC129390903, LOC130061311, RAD51C 4 0 0 0 0 0 4
LOC130058347, SLX4 0 0 4 0 0 0 4
FANCA, SPIRE2 2 0 1 0 0 0 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
BRIP1, INTS2 2 0 0 0 0 0 2
BRIP1, LOC110120932 0 1 1 0 0 0 2
CDK10, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 2 0 0 0 0 0 2
DCLRE1B 2 0 0 0 0 0 2
FANCA, LOC130059837, LOC130059838, LOC132090450 0 2 0 0 0 0 2
FANCC, LOC130002128 1 0 1 0 0 0 2
FANCD2, LOC107303338, VHL 1 1 0 1 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, DRC4, 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
BRCA1, LOC111589215 0 0 1 0 0 0 1
BRCA1, LOC111589215, NBR2 0 0 1 0 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
C17orf47, HSF5, MTMR4, RAD51C, RNF43, SEPTIN4, TEX14 0 0 1 0 0 0 1
CDK10, CENPBD1, CHMP1A, CPNE7, DBNDD1, DEF8, DPEP1, DRC4, 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, DRC4, FANCA, GAS8, MC1R, SPIRE2, TCF25, TUBB3 1 0 0 0 0 0 1
DCTN5, PALB2 1 0 0 0 0 0 1
DMD, FANCA 1 0 0 0 0 0 1
DORIP1, FANCM, FKBP3, FSCB, KLHL28, PRPF39, TOGARAM1 1 0 0 0 0 0 1
ERCC4, LOC130058543, LOC130058544 1 0 0 0 0 0 1
ERCC4, MIR193B, MIR365A, MRTFB, PARN 0 0 1 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
FANCG, VCP 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
HIRA 0 0 1 0 0 0 1
LGR6, UBE2T 1 0 0 0 0 0 1
LOC112486220, ZNF469 1 0 0 0 0 0 1
LOC130058346, SLX4 0 0 1 0 0 0 1
MAD2L2 1 0 0 0 0 0 1
PEX5 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 135
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2319 577 10860 9414 608 0 23777
Fulgent Genetics, Fulgent Genetics 374 370 2680 417 51 0 3891
Illumina Laboratory Services, Illumina 4 5 983 186 295 0 1473
Natera, Inc. 149 181 876 120 61 0 1387
Baylor Genetics 254 560 221 1 0 0 1036
Leiden Open Variation Database 617 8 114 1 0 0 740
Sema4, Sema4 10 20 339 274 46 0 689
Counsyl 44 193 215 57 16 0 524
Department of Pathology and Laboratory Medicine, Sinai Health System 119 37 167 116 12 0 451
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 0 0 54 212 0 268
Revvity Omics, Revvity 95 46 90 1 0 0 232
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 1 17 50 154 0 225
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 14 13 180 2 0 0 209
Mendelics 19 12 77 58 15 0 181
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 96 78 0 0 0 0 174
OMIM 116 0 1 0 0 0 117
Genome-Nilou Lab 0 2 17 10 77 0 106
Myriad Genetics, Inc. 19 62 1 0 0 0 82
Juno Genomics, Hangzhou Juno Genomics, Inc 47 28 2 0 0 0 77
GeneKor MSA 7 8 0 0 58 0 73
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 65 65
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 26 5 26 0 0 0 57
Neuberg Centre For Genomic Medicine, NCGM 16 19 19 0 0 0 54
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 14 14 15 1 4 0 48
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 3 33 3 1 0 42
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 8 8 17 0 0 0 33
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 5 14 2 0 0 33
3billion 19 6 3 3 0 0 31
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 12 14 0 0 0 0 26
Daryl Scott Lab, Baylor College of Medicine 11 4 7 0 0 0 22
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 10 0 0 0 0 18
GenomeConnect, ClinGen 0 0 0 0 0 17 17
First Genomix Gene Laboratory, Genetic Diagnostics Department 7 9 0 0 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 11 0 1 0 15
Istanbul Faculty of Medicine, Istanbul University 6 4 5 0 0 0 15
GeneReviews 0 0 0 0 0 14 14
Genetic Services Laboratory, University of Chicago 10 3 0 0 0 0 13
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 3 0 0 0 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 3 3 0 0 0 10
Otogenetics 8 1 1 0 0 0 10
Johns Hopkins Genomics, Johns Hopkins University 2 0 5 2 0 0 9
Variantyx, Inc. 5 4 0 0 0 0 9
Human Genetics Section, Sidra Medicine 3 3 1 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 2 0 4 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 1 0 0 0 0 6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 2 2 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 4 0 2 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 2 1 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 1 0 1 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 0 1 0 0 0 5
Dasa 3 2 0 0 0 0 5
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 3 0 0 0 0 5
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 5 0 0 0 0 0 5
New York Genome Center 1 1 3 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 4 0 0 0 0 4
Department of Hematology, University of Health Sciences 0 2 0 2 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 1 0 1 1 1 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 2 0 0 0 4
Institute of Immunology and Genetics Kaiserslautern 1 0 3 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 4
Molecular Genetics and Enzymology, National Research Centre 4 0 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 3 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 2 1 0 0 0 3
Clinical and Functional Genomics Group, A.C.Camargo Cancer Center 0 2 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 1 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 1 1 0 0 0 3
MGZ Medical Genetics Center 2 1 0 0 0 0 3
Undiagnosed Diseases Network, NIH 1 1 1 0 0 0 3
Center for Individualized Medicine, Mayo Clinic 0 2 0 0 0 0 2
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 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
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 2
Clinical Immunology, Karolinska University Hospital 1 1 0 0 0 0 2
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 2 0 0 0 0 0 2
Department of Pathology and Genetics, University of Gothenburg 0 2 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 2
EVOGEN 0 2 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 2 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Medical Genetics Institute, Shaare Zedek Medical Center 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Pars Genome Lab 0 0 1 0 1 0 2
Pathway Genomics 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 2 0 0 0 0 2
Acibadem Labgen Genetic Diagnostic Center 1 0 0 0 0 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Cytogenetics and Genomics Laboratory, 'Dr. Enrique Corona Rivera' Institute of Human Genetics 1 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GeNE CliniK, Regional Hospital Limbe 0 0 1 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genesis Genomics 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
International Fanconi Anemia Registry, The Rockefeller University 0 0 0 0 0 1 1
King Fahd Medical Research Center, King Abdulaziz University 0 0 1 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 1 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Molecular Medicine, NSW Health Pathology North, Newcastle 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
The Division of Genetics and Genomic Medicine, Washington University School of Medicine 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1

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