ClinVar Miner

Variants studied for Fanconi anemia, complementation group A

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
450 132 343 61 55 961

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FANCA 374 101 226 21 24 682
FANCA, ZNF276 59 20 71 6 15 159
AOPEP, FANCC 1 0 11 9 1 22
SLX4 2 2 11 2 2 19
FANCA, LOC112486223 5 7 6 0 3 17
FANCC 1 0 5 10 1 17
FANCD2, LOC107303338 0 0 0 6 8 14
FANCM 0 1 5 2 0 8
FANCI 0 1 1 3 0 5
​intergenic 4 0 0 0 0 4
FANCL, VRK2 0 0 3 1 0 4
FANCD2, FANCD2OS 0 0 2 0 1 3
BRCA1 2 0 0 0 0 2
FANCG 0 0 2 0 0 2
FANCB 0 0 0 1 0 1
FANCD2 1 0 0 0 0 1
FANCL 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Leiden Open Variation Database 419 6 90 1 0 516
Counsyl 27 101 66 4 0 198
Illumina Clinical Services Laboratory,Illumina 0 1 133 18 41 193
Mendelics 7 5 45 36 13 106
Fulgent Genetics,Fulgent Genetics 2 5 15 0 0 22
Molecular Diagnostics Laboratory, M Health: University of Minnesota 6 10 0 0 0 16
OMIM 15 0 0 0 0 15
Genetic Services Laboratory,University of Chicago 6 3 0 0 0 9
Department of Medical Genetics,Faculty of Medicine, Istanbul University 0 2 5 0 0 7
Department of Hematology,University of Health Sciences 0 2 0 2 0 4
GeneReviews 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 1 2
Department of Pathology and Genetics,University of Gothenburg 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 2
Myriad Women's Health, Inc. 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Center for Individualized Medicine,Mayo Clinic 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1

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