ClinVar Miner

Variants studied for Fanconi anemia

Included ClinVar conditions (39):
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
1291 445 4971 1161 550 3 7960

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRIP1 189 94 1280 278 50 0 1817
FANCA 477 128 540 147 61 0 1229
RAD51C 85 52 466 93 8 0 685
SLX4 26 5 453 99 83 0 631
FANCM 35 10 455 64 31 0 593
FANCI 35 8 268 50 39 0 373
AOPEP, FANCC 38 43 209 68 23 0 350
BRCA2 39 1 148 68 28 1 282
FANCA, ZNF276 66 24 114 31 21 0 232
FANCD2, LOC107303338 30 5 130 45 38 0 223
FANCG 54 7 122 39 8 0 218
FANCC 47 32 110 34 7 0 204
FANCE 12 4 121 16 16 0 158
FANCF 13 1 105 20 24 0 156
FANCB 22 2 65 22 44 0 150
ERCC4 11 3 87 24 14 0 135
PALB2 17 0 66 17 7 2 108
FANCD2, FANCD2OS 6 1 62 9 11 0 84
FANCL 12 5 50 12 6 0 80
FANCL, VRK2 5 8 35 9 7 0 59
BRCA1 28 0 20 0 2 0 50
FANCI, POLG 2 0 20 6 10 0 34
FANCA, LOC112486223 13 7 13 1 3 0 33
FANCD2 8 2 7 1 2 0 20
XRCC2 0 1 13 3 0 0 17
BRIP1, LOC110120932 1 1 5 0 0 0 7
BRCA2, LOC106721785 0 0 3 2 1 0 6
FANCG, VCP 1 0 2 3 6 0 6
UBE2T 5 0 0 0 0 0 5
​intergenic 4 0 0 0 0 0 4
RAD51 2 1 0 0 0 0 3
RFWD3 2 0 1 0 0 0 3
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
FANCA, MC1R, SPIRE2, TCF25, ZNF276 1 0 0 0 0 0 1
MAD2L2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 616 204 3763 879 385 0 5846
Illumina Clinical Services Laboratory,Illumina 3 4 1052 213 302 0 1568
Leiden Open Variation Database 617 8 114 1 0 0 740
Counsyl 45 198 217 57 16 0 532
Fulgent Genetics,Fulgent Genetics 60 6 166 0 3 0 235
Mendelics 15 17 128 52 14 0 226
OMIM 109 0 1 0 0 0 110
Baylor Genetics 17 6 2 0 0 0 25
Molecular Diagnostics Laboratory, M Health: University of Minnesota 11 13 0 0 0 0 24
Integrated Genetics/Laboratory Corporation of America 12 9 0 0 0 0 21
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 12 0 0 0 14
Genetic Services Laboratory,University of Chicago 10 3 0 0 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 3 3 5 0 12
GeneReviews 12 0 0 0 0 0 12
Department of Medical Genetics,Faculty of Medicine, Istanbul University 0 4 5 0 0 0 9
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 2 0 0 0 0 7
Myriad Women's Health, Inc. 4 1 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 0 0 1 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 0 3
Natera Inc 1 0 1 0 1 0 3
Medical Genetics Institute,Shaare Zedek Medical Center 2 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Center for Individualized Medicine,Mayo Clinic 0 2 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 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
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 1 0 0 2
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 0 2 0 0 0 0 2
King Laboratory,University of Washington 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 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
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 1

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