ClinVar Miner

Variants studied for Fanconi anemia complementation group A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 not provided total
886 279 3027 1224 359 1 5558

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FANCA 521 174 719 349 65 0 1674
FANCM 59 11 612 154 31 0 865
SLX4 22 5 454 146 69 0 695
FANCI 18 6 265 84 37 0 409
FANCA, ZNF276 75 27 139 72 21 0 301
AOPEP, FANCC 30 10 167 78 13 0 294
FANCD2, LOC107303338 14 4 129 65 32 0 240
FANCC 46 7 110 66 7 0 231
FANCG 30 11 92 89 6 0 227
FANCB 0 2 62 31 35 0 129
FANCF 8 0 75 23 13 0 119
FANCL 9 6 49 16 4 0 84
FANCD2, FANCD2OS 5 1 57 14 4 0 81
FANCL, VRK2 4 5 28 8 6 0 49
FANCA, LOC112486223 19 7 17 5 3 0 46
FANCI, POLG 2 1 13 6 5 0 27
BRIP1 1 0 16 3 0 0 20
BRCA2 1 0 10 7 1 0 19
FANCD2 5 2 8 0 0 0 15
​intergenic 9 0 0 0 0 0 9
FANCG, VCP 0 0 2 2 6 0 7
RAD51C 0 0 0 4 0 0 4
PALB2 0 0 1 1 0 1 3
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 1 0 0 0 2
BRCA1 2 0 0 0 0 0 2
FANCE 0 0 1 0 1 0 2
BRCA2, LOC106721785 0 0 0 1 0 0 1
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
FANCA, MC1R, SPIRE2, TCF25, ZNF276 1 0 0 0 0 0 1
LOC112486220 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 505 131 2673 1149 329 0 4786
Leiden Open Variation Database 419 6 90 1 0 0 516
Illumina Clinical Services Laboratory,Illumina 1 1 199 46 52 0 299
Counsyl 27 101 66 4 0 0 198
Natera, Inc. 20 1 115 16 40 0 192
Mendelics 7 5 45 36 13 0 106
Baylor Genetics 2 2 33 0 0 0 37
Myriad Women's Health, Inc. 2 25 0 0 0 0 27
Fulgent Genetics,Fulgent Genetics 2 5 15 0 0 0 22
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 6 10 0 0 0 0 16
OMIM 15 0 0 0 0 0 15
Genetic Services Laboratory, University of Chicago 6 3 0 0 0 0 9
Department of Medical Genetics,Faculty of Medicine, Istanbul University 0 2 5 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 1 0 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 2 1 0 0 0 5
Department of Hematology,University of Health Sciences 0 2 0 2 0 0 4
Molecular Genetics and Enzymology,National Research Centre 4 0 0 0 0 0 4
GeneReviews 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 1 0 2
Department of Pathology and Genetics,University of Gothenburg 0 2 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Center for Individualized Medicine,Mayo Clinic 0 1 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 0 1
Nilou-Genome Lab 0 0 1 0 0 0 1
International Fanconi Anemia Registry,The Rockefeller University 0 1 0 0 0 0 1

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