ClinVar Miner

Variants studied for Fanconi anemia

Included ClinVar conditions (40):
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
1507 544 6142 2003 561 3 10212

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRIP1 240 106 1518 414 51 0 2253
FANCA 521 174 719 349 65 0 1674
FANCM 59 11 612 154 31 0 865
SLX4 34 8 579 161 84 0 827
RAD51C 98 55 539 143 8 0 822
FANCI 39 10 337 89 40 0 484
AOPEP, FANCC 44 49 250 102 23 0 429
FANCA, ZNF276 75 27 139 72 21 0 301
FANCD2, LOC107303338 35 7 172 71 39 0 295
FANCG 63 13 137 95 8 0 294
BRCA2 40 1 150 68 28 1 285
FANCC 58 37 138 70 7 0 282
FANCE 16 7 150 33 17 0 207
ERCC4 12 4 132 38 16 0 196
FANCF 14 1 124 28 24 0 183
FANCB 22 2 86 34 44 0 181
FANCD2, FANCD2OS 10 2 83 16 11 0 116
PALB2 19 0 70 17 7 2 114
FANCL 13 6 67 18 6 0 105
FANCL, VRK2 6 8 42 10 7 0 68
BRCA1 29 1 20 0 2 0 52
FANCA, LOC112486223 19 7 17 5 3 0 46
FANCI, POLG 3 1 21 7 10 0 38
FANCD2 11 4 11 1 2 0 29
XRCC2 0 1 15 3 0 0 19
​intergenic 9 0 0 0 0 0 9
BRIP1, LOC110120932 1 1 5 0 0 0 7
FANCG, VCP 1 0 3 3 6 0 7
BRCA2, LOC106721785 0 0 3 2 1 0 6
UBE2T 5 0 0 0 0 0 5
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
C17orf47, HSF5, MTMR4, RAD51C, RNF43, SEPTIN4, TEX14 0 0 1 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
MAD2L2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 847 263 4826 1717 395 0 8047
Illumina Clinical Services Laboratory,Illumina 3 4 1056 213 302 0 1572
Leiden Open Variation Database 617 8 114 1 0 0 740
Counsyl 45 198 217 57 16 0 532
Natera, Inc. 25 4 203 40 48 0 320
Fulgent Genetics,Fulgent Genetics 60 6 166 0 3 0 235
Mendelics 15 17 128 52 14 0 226
Baylor Genetics 31 13 147 0 0 0 191
OMIM 109 0 1 0 0 0 110
Myriad Women's Health, Inc. 4 34 0 0 0 0 38
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 11 13 0 0 0 0 24
Integrated Genetics/Laboratory Corporation of America 12 11 0 0 0 0 23
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 11 0 1 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 13 0 0 0 15
Genetic Services Laboratory, University of Chicago 10 3 0 0 0 0 13
GeneReviews 12 0 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 3 3 2 0 9
Department of Medical Genetics,Faculty of Medicine, Istanbul University 0 4 5 0 0 0 9
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 5 2 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 2 0 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 2 1 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 2 0 0 1 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
Daryl Scott Lab,Baylor College of Medicine 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
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
Nilou-Genome Lab 0 0 1 1 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
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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 2 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 2 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 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
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
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 1
Pars 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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