ClinVar Miner

Variants studied for Fanconi anemia

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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 risk factor total
163 47 1618 374 92 1 2279

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
FANCA 71 16 231 36 8 0 359
SLX4 8 2 273 54 4 0 340
FANCM 0 0 232 21 10 1 258
FANCI 9 1 168 23 4 0 205
AOPEP, FANCC 11 7 140 11 3 0 172
BRCA2 1 0 29 77 17 0 124
FANCD2, LOC107303338 8 1 64 20 12 0 101
FANCC 18 2 72 4 0 0 96
FANCG 12 3 66 8 3 0 92
BRIP1 1 0 60 29 0 0 90
FANCF 2 1 69 11 4 0 87
FANCA, ZNF276 2 5 51 17 3 0 78
FANCD2, FANCD2OS 0 0 31 4 7 0 42
PALB2 0 0 9 23 3 0 35
FANCB 0 2 24 4 3 0 33
FANCE 0 0 25 5 3 0 33
FANCL 3 2 21 5 0 0 31
FANCL, VRK2 2 5 21 2 1 0 30
FANCI, POLG 1 0 15 5 5 0 26
FANCA, LOC112486223 9 0 7 3 0 0 19
FANCD2 1 0 5 2 0 0 8
RAD51C 0 0 2 6 0 0 8
BRCA2, LOC106721785 0 0 1 2 1 0 4
FANCG, VCP 0 0 1 2 1 0 4
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 1 0 0 0 2
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 1 0 0 0 0 0 1
FANCA, LOC112486223, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 1
FANCA, LOC112486223, ZNF276 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 155 46 1109 98 16 1 1424
Illumina Clinical Services Laboratory,Illumina 1 0 559 276 77 0 913
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 1 0 0 0 0 5
Molecular Genetics and Enzymology,National Research Centre 4 0 0 0 0 0 4
Natera Inc 1 0 1 0 1 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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