ClinVar Miner

Variants studied for Fanconi anemia

Coded as:
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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 total
1648 587 7216 7178 513 16758

Gene and significance breakdown #

Total genes and gene combinations: 55
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FANCA 534 200 1276 1836 97 3787
FANCM 159 27 1390 682 50 2305
SLX4 110 21 1220 785 81 2188
FANCI 144 56 750 910 67 1908
FANCD2, LOC107303338 91 36 404 523 42 1081
FANCG 103 37 262 473 16 880
AOPEP, FANCC 85 51 353 366 16 840
FANCL 70 38 228 305 22 649
FANCA, ZNF276 88 27 238 292 15 629
FANCB 7 3 291 273 65 618
FANCD2, FANCD2OS 38 23 173 226 7 460
FANCC 79 29 174 187 8 458
FANCF 31 5 210 90 12 344
FANCA, LOC112486223 17 2 51 53 5 119
FANCD2 24 6 28 26 2 86
FANCA, LOC130059837 14 6 41 30 1 82
FANCA, LOC132090450 8 5 13 34 0 57
FANCI, POLG 5 1 16 22 2 46
FANCF, LOC130005443 0 0 28 11 1 40
FANCL, VRK2 2 1 12 16 1 31
FANCE 3 1 16 8 2 30
FANCM, LOC130055524 1 0 12 8 0 21
FANCA, LOC132090445, ZNF276 3 0 3 14 0 20
FANCF, LOC130005444 0 0 10 4 1 15
FANCE, LOC129996245 0 2 5 3 0 10
FANCA, LOC130059837, LOC130059838 7 1 0 0 0 8
FANCA, LOC112486223, LOC130059839 5 0 1 0 0 6
BRCA2 3 2 0 0 0 5
BRIP1 1 2 0 0 0 3
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
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, 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 1
ANKRD11, CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276 0 0 1 0 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, DRC4, 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, DRC4, 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
FANCG, VCP 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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1565 384 6798 7037 501 16284
Natera, Inc. 130 145 604 72 14 965
Sema4, Sema4 10 20 339 274 46 689
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 67 52 0 0 0 119
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
GeneKor MSA 0 0 0 0 13 13
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
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Cytogenetics and Genomics Laboratory, 'Dr. Enrique Corona Rivera' Institute of Human Genetics 1 0 0 0 0 1
Dasa 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 1

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