ClinVar Miner

Variants studied for Fanconi anemia

Coded as:
Minimum submission review status: Collection method:
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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
350 93 2738 560 338 4070

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FANCA 157 36 516 128 61 896
FANCM 35 9 610 64 31 749
SLX4 14 2 449 81 69 615
FANCI 12 4 265 41 37 359
AOPEP, FANCC 21 8 162 43 12 246
FANCD2, LOC107303338 10 3 129 34 27 203
FANCC 33 6 107 26 7 179
FANCG 20 7 91 35 6 158
FANCA, ZNF276 15 6 76 25 11 133
FANCB 0 2 62 20 35 119
FANCF 5 0 75 15 13 108
FANCL 6 5 49 10 4 74
FANCD2, FANCD2OS 1 0 56 7 3 67
FANCL, VRK2 2 5 27 7 6 45
FANCA, LOC112486223 10 0 12 1 3 26
FANCI, POLG 1 0 13 5 5 24
BRIP1 1 0 16 3 0 20
BRCA2 1 0 10 7 1 19
FANCD2 1 0 8 0 0 9
FANCG, VCP 0 0 2 2 6 7
RAD51C 0 0 0 4 0 4
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 1 0 0 2
FANCE 0 0 1 0 1 2
PALB2 0 0 1 1 0 2
BRCA2, LOC106721785 0 0 0 1 0 1
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 1 0 0 0 0 1
FANCA, LOC112486223, MC1R, SPIRE2, TCF25 1 0 0 0 0 1
FANCA, LOC112486223, ZNF276 1 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, ZNF276 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 342 91 2673 532 329 3966
Illumina Clinical Services Laboratory,Illumina 1 0 66 28 11 106
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 1 0 0 0 5
Molecular Genetics and Enzymology,National Research Centre 4 0 0 0 0 4
Natera, Inc. 1 0 1 0 1 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 1 0 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1

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