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
1457 431 6336 6400 511 14841

Gene and significance breakdown #

Total genes and gene combinations: 57
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FANCA 487 133 1094 1698 97 3398
FANCM 143 21 1226 562 45 1997
SLX4 87 17 1093 641 81 1890
FANCI 116 51 679 797 62 1683
FANCD2, LOC107303338 78 32 337 442 41 915
FANCG 95 33 225 430 10 784
AOPEP, FANCC 71 26 314 341 16 757
FANCL 63 30 209 263 22 573
FANCA, ZNF276 81 22 201 274 16 570
FANCB 7 3 223 253 65 530
FANCC 73 13 143 174 8 408
FANCD2, FANCD2OS 31 20 146 198 7 395
FANCF 25 4 186 88 12 311
FANCA, LOC112486223 13 1 46 50 5 108
FANCD2 23 6 26 23 2 80
FANCA, LOC130059837 13 4 37 29 1 76
FANCI, POLG 4 1 22 25 8 59
FANCA, LOC132090450 8 3 10 32 0 53
FANCF, LOC130005443 0 0 22 11 1 34
FANCE 2 1 17 8 3 31
FANCL, VRK2 2 1 13 14 1 29
BRIP1 1 2 16 3 0 22
BRCA2 3 0 10 7 1 21
FANCM, LOC130055524 1 0 12 8 0 21
FANCA, LOC132090445, ZNF276 2 0 2 11 0 15
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
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
C14orf28, FANCM, FKBP3, FSCB, KLHL28, PRPF39, TOGARAM1 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
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: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1404 352 6003 6231 495 14484
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 40 47 0 0 0 87
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 22 0 0 23
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
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 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
Cytogenetics and Genomics Laboratory, 'Dr. Enrique Corona Rivera' Institute of Human Genetics 1 0 0 0 0 1

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