ClinVar Miner

Variants studied for Fanconi anemia

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 total
1548 457 6777 6864 512 15855

Gene and significance breakdown #

Total genes and gene combinations: 58
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FANCA 505 137 1142 1777 97 3544
FANCM 150 26 1323 623 45 2163
SLX4 97 20 1158 711 81 2038
FANCI 135 54 722 868 63 1820
FANCD2, LOC107303338 87 35 382 494 41 1024
FANCG 101 34 248 459 10 843
AOPEP, FANCC 77 26 322 355 16 784
FANCL 68 32 217 288 22 612
FANCA, ZNF276 81 22 210 286 16 591
FANCB 7 3 261 269 65 584
FANCD2, FANCD2OS 35 21 166 215 7 437
FANCC 74 13 153 182 8 427
FANCF 28 5 203 90 12 334
FANCA, LOC112486223 15 1 46 52 5 112
FANCD2 23 6 27 24 2 82
FANCA, LOC130059837 13 4 39 29 1 78
FANCI, POLG 4 1 23 27 8 62
FANCA, LOC132090450 8 3 10 33 0 54
FANCF, LOC130005443 0 0 26 11 1 38
FANCE 2 1 17 8 3 31
FANCL, VRK2 2 1 14 15 1 31
BRCA2 3 2 10 7 1 23
BRIP1 1 2 16 3 0 22
FANCM, LOC130055524 1 0 12 8 0 21
FANCA, LOC132090445, ZNF276 3 0 2 12 0 17
FANCF, LOC130005444 0 0 9 4 1 14
FANCE, LOC129996245 0 2 5 3 0 10
FANCA, LOC130059837, LOC130059838 7 1 0 0 0 8
FANCG, VCP 0 0 2 4 6 7
FANCA, LOC112486223, LOC130059839 5 0 1 0 0 6
RAD51C 0 0 0 4 0 4
FANCA, SPIRE2 2 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 2
CDK10, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 2 0 0 0 0 2
FANCA, LOC130059837, LOC130059838, LOC132090450 0 2 0 0 0 2
FANCD2, LOC107303338, VHL 0 1 0 1 0 2
PALB2 0 0 1 1 0 2
RFWD3 0 1 1 0 0 2
ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2 0 0 1 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 1
ANKRD11, CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276 0 0 1 0 0 1
BRCA2, LOC106721785 0 0 0 1 0 1
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, LOC129936148, LOC129936149, VHL 1 0 0 0 0 1
BRK1, FANCD2, FANCD2OS, VHL 1 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 1
CDK10, CHMP1A, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 1 0 0 0 0 1
CENPBD1, DBNDD1, DEF8, FANCA, GAS8, MC1R, SPIRE2, TCF25, TUBB3 1 0 0 0 0 1
DORIP1, FANCM, FKBP3, FSCB, KLHL28, PRPF39, TOGARAM1 1 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 1
FANCA, LOC112486223, LOC129390817, LOC130059837, LOC130059838, LOC130059839, LOC132090445, LOC132090446, LOC132090447, LOC132090448, LOC132090449, LOC132090450, ZNF276 1 0 0 0 0 1
FANCA, LOC112486223, LOC130059837, LOC130059838, LOC130059839 1 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, TUBB3 1 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, ZNF276 1 0 0 0 0 1
FANCC, PTCH1 0 0 1 0 0 1
FANCF, LOC130005443, LOC130005444 0 0 1 0 0 1
FANCL, LOC129388866, LOC129933782, VRK2 1 0 0 0 0 1
FANCL, LOC129388866, VRK2 0 1 0 0 0 1
LOC130058346, SLX4 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1489 372 6445 6696 496 15497
Sema4, Sema4 10 20 339 274 46 689
Natera, Inc. 37 13 425 69 14 558
Illumina Laboratory Services, Illumina 1 0 66 28 11 106
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 53 49 0 0 0 102
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 24 5 26 0 0 55
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 23 0 0 24
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 9 0 0 0 16
Molecular Genetics and Enzymology, National Research Centre 4 0 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 1 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Cytogenetics and Genomics Laboratory, 'Dr. Enrique Corona Rivera' Institute of Human Genetics 1 0 0 0 0 1

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