ClinVar Miner

Variants studied for congenital anemia

Included ClinVar conditions (72):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
2980 1608 11977 9430 1009 77 25590

Gene and significance breakdown #

Total genes and gene combinations: 117
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRIP1 412 186 2288 1146 63 4 3988
FANCA 687 305 1301 1720 119 9 3761
FANCM 143 20 1227 563 45 0 1996
SLX4 96 29 1194 659 96 3 1987
FANCI 126 132 755 812 64 2 1780
RAD51C 146 63 765 375 17 2 1335
FANCD2, LOC107303338 98 82 383 458 60 1 1002
AOPEP, FANCC 88 86 408 363 29 3 900
FANCG 121 80 276 440 15 5 871
FANCA, ZNF276 111 50 266 279 28 0 657
FANCL 64 55 235 267 26 0 610
G6PD 114 174 105 246 34 2 603
FANCB 26 4 251 262 71 0 575
FANCE 33 33 241 252 24 0 546
ERCC4 28 4 293 189 27 1 526
FANCC 82 61 155 180 11 6 450
SEC23B 40 21 84 291 33 0 446
FANCD2, FANCD2OS 35 34 175 202 14 0 438
BRCA2 90 9 190 85 36 23 420
FANCF 32 16 227 92 21 0 370
PALB2 48 9 191 49 8 10 306
CDAN1 14 12 179 37 21 2 249
BRCA1 56 5 30 22 18 1 130
FANCA, LOC112486223 18 11 54 50 5 0 123
FANCE, LOC129996245 8 11 68 36 2 0 117
LOC129390903, RAD51C 19 3 67 30 0 1 117
PKLR 19 17 64 4 4 0 104
FANCA, LOC130059837 18 13 43 31 1 0 90
PUS1 5 13 47 18 10 0 85
FANCD2 20 7 28 25 3 0 80
GPI 17 8 37 8 6 0 72
LOC126862987, SEC23B 12 1 8 42 7 0 68
FANCI, POLG, POLGARF 2 0 29 25 10 0 63
FANCA, LOC132090450 11 8 13 32 2 0 61
ERCC4, LOC130058543 4 0 36 16 1 0 57
YARS2 7 4 25 4 8 0 44
FANCF, LOC130005443 0 1 24 11 2 0 36
FANCL, VRK2 2 1 20 15 2 0 36
G6PD, IKBKG 3 6 14 9 3 0 33
LOC130061310, RAD51C 2 2 9 18 0 0 29
KIF23 2 0 23 1 0 0 26
​intergenic 24 0 0 0 0 0 24
XRCC2 0 3 17 3 4 0 24
DNM1L, YARS2 0 0 5 17 7 0 22
KLF1 0 1 8 1 12 0 22
FANCM, LOC130055524 1 0 12 8 0 0 21
BRCA1, LOC126862571 8 0 8 2 2 0 20
CDAN1, LOC130056931 0 1 11 4 4 0 19
FANCA, LOC132090445, ZNF276 4 2 3 11 0 0 18
CDIN1 2 4 6 0 6 2 16
FANCF, LOC130005444 0 1 9 4 1 0 15
FANCA, LOC130059837, LOC130059838 11 1 0 0 0 0 12
FANCA, LOC112486223, LOC130059839 9 1 1 0 0 0 11
HCN3, PKLR 0 0 9 0 1 0 10
LOC130009240, PUS1 1 3 2 2 1 0 9
RFWD3 2 0 3 1 3 0 9
ZNF469 9 0 0 0 0 0 9
BRIP1, LOC130061360 3 0 5 0 0 0 8
KLF1, LOC117125591 3 1 2 0 2 0 8
LOC132090059, PUS1 1 2 3 2 2 0 8
BRCA2, LOC106721785 0 1 3 2 1 0 7
FANCG, VCP 1 0 3 5 6 0 7
FANCI, POLG 2 1 2 1 2 0 7
KLF1, LOC130063673 0 0 4 0 3 0 7
LOC129390903, LOC130061310, LOC130061311, RAD51C 3 0 3 0 0 0 6
RAD51 2 3 1 0 0 0 6
BRIP1, LOC110120932, LOC130061360 1 0 4 0 0 0 5
UBE2T 4 0 0 0 1 0 5
CDAN1, LOC130056933 0 0 4 0 0 0 4
LOC129390903, LOC130061311, RAD51C 4 0 0 0 0 0 4
LOC130058347, SLX4 0 0 4 0 0 0 4
CASK 1 1 0 1 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, LOC110120932 0 1 1 0 0 0 2
CDAN1, LOC130056932 0 0 1 1 0 0 2
DCLRE1B 2 0 0 0 0 0 2
FANCA, LOC130059837, LOC130059838, LOC132090450 0 2 0 0 0 0 2
FANCA, SPIRE2 1 0 1 0 0 0 2
FANCC, LOC130002128 1 0 1 0 0 0 2
G6PD, IKBKG, LOC107181288 1 0 0 0 1 0 2
G6PD, IKBKG, LOC108281126 0 0 0 0 2 0 2
KLF1, LOC117125592 0 0 0 1 1 0 2
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
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
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 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
C14orf28, FANCM, FKBP3, FSCB, KLHL28, PRPF39, TOGARAM1 1 0 0 0 0 0 1
C17orf47, HSF5, MTMR4, RAD51C, RNF43, SEPTIN4, TEX14 0 0 1 0 0 0 1
CDIN1, LOC130056772 0 0 0 0 1 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
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, 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
G6PD, IKBKG, LOC107181288, LOC129929052 0 1 0 0 0 0 1
G6PD, IKBKG, LOC107181288, LOC130068881 0 0 1 0 0 0 1
GCDH, KLF1, LOC117125594 1 0 0 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
MT-ATP6 1 0 0 0 0 0 1
POLR3F, RBBP9, SEC23B 0 0 1 0 0 0 1
STEAP3 1 0 0 0 0 0 1
TAFAZZIN 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 132
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2044 582 9710 8811 656 0 21802
Fulgent Genetics, Fulgent Genetics 244 102 1246 395 52 0 2039
Illumina Laboratory Services, Illumina 8 8 1333 273 377 0 1984
Natera, Inc. 69 19 684 126 66 0 964
Baylor Genetics 225 434 226 1 0 0 886
Leiden Open Variation Database 617 8 114 1 0 0 740
Sema4, Sema4 10 20 339 274 46 0 689
Counsyl 49 193 215 57 16 0 529
Revvity Omics, Revvity 125 62 219 1 1 0 408
Dunham Lab, University of Washington 96 148 17 3 20 0 284
Mendelics 51 17 117 53 15 0 253
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 54 191 0 246
OMIM 176 0 1 0 0 0 177
Genome-Nilou Lab 1 2 17 10 101 0 131
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 1 41 46 29 0 124
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 53 65 0 0 0 0 118
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 4 89 0 0 0 99
Myriad Genetics, Inc. 8 53 3 0 0 0 64
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 25 15 20 0 0 0 60
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 26 5 26 0 0 0 57
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 50 50
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 3 34 3 1 0 43
3billion 13 10 9 0 0 0 32
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 15 3 10 2 0 0 30
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 11 13 0 0 0 0 24
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 1 12 0 1 0 20
GeneReviews 1 0 0 0 0 18 19
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 5 7 0 0 0 17
Istanbul Faculty of Medicine, Istanbul University 6 4 5 0 0 0 15
Genetics and Molecular Pathology, SA Pathology 4 5 5 0 0 0 14
Genetic Services Laboratory, University of Chicago 10 3 0 0 0 0 13
Johns Hopkins Genomics, Johns Hopkins University 3 3 5 2 0 0 13
Lifecell International Pvt. Ltd 9 3 1 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 5 3 4 0 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 7 2 0 0 0 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 5 0 0 0 0 11
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5 4 1 0 0 0 10
MGZ Medical Genetics Center 8 1 0 0 0 0 9
Centogene AG - the Rare Disease Company 3 4 2 0 0 0 9
Daryl Scott Lab, Baylor College of Medicine 7 1 1 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 6 1 1 0 1 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 2 0 0 2 0 9
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 3 0 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 5 2 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 3 2 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 2 0 0 0 0 7
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 2 2 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 4 2 0 0 0 6
New York Genome Center 2 0 4 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 0 0 0 0 0 5
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 4 1 0 0 0 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 4 1 0 0 0 0 5
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 3 0 0 0 0 5
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 2 1 1 0 5
DASA 3 2 0 0 0 0 5
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 1 0 0 0 0 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
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 1 0 0 0 0 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 3 1 0 0 0 0 4
Institute of Human Genetics, Cologne University 1 1 1 0 0 0 3
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 0 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 2 1 0 0 0 0 3
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 3 0 0 0 0 0 3
Medical Genetics Institute, Shaare Zedek Medical Center 2 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 0 2
Center for Individualized Medicine, Mayo Clinic 0 2 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 2 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 1 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 2
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 0 2 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 2 0 0 0 2
Pars Genome Lab 0 0 1 0 1 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 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
Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine 1 1 0 0 0 0 2
Department of Emergency, The First Affiliated Hospital of Army Medical University 2 0 0 0 0 0 2
King Fahd Medical Research Center, King Abdulaziz University 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 1
Amsterdam UMC Genome Diagnostics, Amsterdam University Medical Center, Location AMC 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
UOSD Diagnostica Molecolare E Genomica, Irccs Policlinico Agostino Gemelli 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 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
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
International Fanconi Anemia Registry, The Rockefeller University 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 0 1 0 0 0 0 1
Research Laboratory of Clinical Virology, Ruijin Hospital 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Molecular Medicine, NSW Health Pathology North, Newcastle 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 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
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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