ClinVar Miner

Variants studied for Fanconi anemia

Included ClinVar conditions (38):
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 risk factor not provided total
564 362 3111 562 129 1 2 4597

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
BRIP1 127 75 904 119 12 0 0 1204
FANCA 108 110 272 44 8 0 0 510
RAD51C 61 38 339 45 6 0 0 474
SLX4 16 5 287 56 6 0 0 368
FANCM 0 1 236 23 10 1 0 264
AOPEP, FANCC 18 42 162 24 4 0 0 239
FANCI 13 6 171 26 4 0 0 219
BRCA2 39 1 62 77 18 0 1 196
FANCC 26 30 81 13 1 0 0 138
FANCD2, LOC107303338 10 3 65 26 17 0 0 115
FANCA, ZNF276 6 21 65 18 4 0 0 111
FANCG 19 3 71 8 3 0 0 103
FANCE 4 1 78 10 3 0 0 96
FANCF 5 2 71 11 4 0 0 93
PALB2 15 0 31 23 3 0 1 73
FANCB 22 2 29 5 3 0 0 61
ERCC4 8 1 39 5 4 0 0 56
BRCA1 28 0 20 0 2 0 0 50
FANCD2, FANCD2OS 1 1 32 4 8 0 0 46
FANCL 8 4 23 5 0 0 0 40
FANCL, VRK2 5 5 24 3 1 0 0 35
FANCA, LOC112486223 10 7 8 3 0 0 0 26
FANCI, POLG 1 0 15 5 6 0 0 26
XRCC2 0 0 13 3 0 0 0 16
FANCD2 3 2 5 2 0 0 0 12
BRIP1, LOC110120932 1 1 5 0 0 0 0 7
BRCA2, LOC106721785 0 0 1 2 1 0 0 4
FANCG, VCP 0 0 1 2 1 0 0 4
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 1 0 0 0 0 2
RAD51 1 1 0 0 0 0 0 2
RFWD3 2 0 0 0 0 0 0 2
UBE2T 2 0 0 0 0 0 0 2
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 1 0 0 0 0 0 0 1
FANCA, LOC112486223, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 0 1
FANCA, LOC112486223, ZNF276 1 0 0 0 0 0 0 1
MAD2L2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 345 120 2356 180 20 1 0 3021
Illumina Clinical Services Laboratory,Illumina 3 4 570 276 77 0 0 930
Counsyl 49 199 217 57 16 0 0 537
Fulgent Genetics,Fulgent Genetics 60 6 166 0 3 0 0 235
Mendelics 15 17 129 52 14 0 0 226
OMIM 108 0 1 0 0 0 0 109
Baylor Genetics 17 6 2 0 0 0 0 25
Molecular Diagnostics Laboratory, M Health: University of Minnesota 11 13 0 0 0 0 0 24
Leiden Open Variation Database 18 0 3 0 0 0 0 21
Integrated Genetics/Laboratory Corporation of America 9 10 0 0 0 0 0 19
Genetic Services Laboratory, University of Chicago 11 3 0 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 12 0 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 3 3 5 0 0 12
GeneReviews 12 0 0 0 0 0 0 12
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 2 0 0 0 0 0 7
PALB2 database 4 0 2 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 3 1 0 0 0 0 4
Department of Hematology,University of Health Sciences 0 2 0 2 0 0 0 4
Molecular Genetics and Enzymology,National Research Centre 4 0 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 0 0 1 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 0 0 3
Natera Inc 1 0 1 0 1 0 0 3
Medical Genetics Institute,Shaare Zedek Medical Center 2 0 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 0 2
Center for Individualized Medicine,Mayo Clinic 0 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics,University of Washington 2 0 0 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 1 0 0 2
Department of Pathology and Genetics,University of Gothenburg 0 2 0 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 0 2
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 0 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 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 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 0 1

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