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
1359 414 6328 6400 511 14720

Gene and significance breakdown #

Total genes and gene combinations: 53
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FANCA 439 124 1094 1698 97 3342
FANCM 143 19 1225 562 45 1994
SLX4 87 17 1093 641 81 1890
FANCI 108 49 679 797 62 1673
FANCD2, LOC107303338 78 32 337 443 41 916
FANCG 95 33 225 430 10 784
AOPEP, FANCC 71 26 314 341 16 757
FANCL 58 30 209 263 22 568
FANCA, ZNF276 68 21 200 274 16 555
FANCB 7 3 222 253 65 529
FANCC 69 13 140 174 8 401
FANCD2, FANCD2OS 29 20 146 198 7 394
FANCF 24 4 186 88 12 310
FANCA, LOC112486223 13 1 46 50 5 108
FANCA, LOC130059837 13 4 37 29 1 76
FANCD2 13 5 26 23 2 69
FANCA, LOC132090450 8 3 10 32 0 53
FANCI, POLG, POLGARF 1 0 20 24 6 51
FANCF, LOC130005443 0 0 22 11 1 34
FANCE 1 1 17 8 3 30
FANCL, VRK2 1 0 12 14 1 26
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
FANCI, POLG 2 1 2 1 2 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
FANCA, LOC130059837, LOC130059838, LOC132090450 0 2 0 0 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
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
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, 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: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1313 339 5995 6231 495 14372
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 31 41 0 0 0 72
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 21 0 0 22
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

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