ClinVar Miner

Variants studied for Fanconi anemia complementation group A

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
566 384 879 183 118 12 1922

Gene and significance breakdown #

Total genes and gene combinations: 27
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FANCA 406 299 647 122 79 10 1393
FANCA, ZNF276 68 44 146 15 21 2 270
FANCA, LOC112486223 14 13 28 3 3 0 52
FANCA, LOC130059837 15 14 20 4 0 0 41
​intergenic 24 0 0 0 0 0 24
FANCA, LOC132090450 7 6 8 3 2 0 23
AOPEP, FANCC 1 0 7 12 1 0 21
SLX4 2 2 10 2 2 0 18
FANCD2, LOC107303338 0 0 0 6 8 0 14
FANCC 1 0 1 8 1 0 11
ZNF469 9 0 0 0 0 0 9
FANCA, LOC132090445, ZNF276 3 2 1 0 0 0 6
FANCI 0 2 1 3 0 0 6
FANCM 0 1 3 2 0 0 6
FANCA, LOC112486223, LOC130059839 4 1 0 0 0 0 5
FANCL 2 0 2 1 0 0 5
FANCA, LOC130059837, LOC130059838 4 0 0 0 0 0 4
FANCD2, FANCD2OS 0 0 2 0 1 0 3
BRCA1 2 0 0 0 0 0 2
FANCG 0 0 2 0 0 0 2
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276 1 0 0 0 0 0 1
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 0 0 1 0 0 0 1
DMD, FANCA 1 0 0 0 0 0 1
FANCB 0 0 0 1 0 0 1
FANCD2 1 0 0 0 0 0 1
FANCM, LOC130055524 0 0 0 1 0 0 1
LOC112486220, ZNF469 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 76
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 61 103 478 88 3 0 733
Leiden Open Variation Database 419 6 90 1 0 0 516
Baylor Genetics 142 142 41 0 0 0 325
Counsyl 26 98 64 4 0 0 192
Illumina Laboratory Services, Illumina 0 1 130 18 41 0 190
Natera, Inc. 1 0 112 17 39 0 169
Mendelics 7 5 31 39 13 0 95
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 8 3 78 0 0 0 89
Revvity Omics, Revvity 32 13 21 0 0 0 66
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 18 45 0 64
Myriad Genetics, Inc. 16 43 1 0 0 0 60
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 4 14 36 0 55
GeneKor MSA 7 8 0 0 38 0 53
Genome-Nilou Lab 0 0 13 3 33 0 49
Neuberg Centre For Genomic Medicine, NCGM 8 9 10 0 0 0 27
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 7 10 0 0 0 0 17
3billion 11 4 1 0 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 6 3 1 1 0 15
OMIM 15 0 0 0 0 0 15
Istanbul Faculty of Medicine, Istanbul University 5 2 5 0 0 0 12
Genetic Services Laboratory, University of Chicago 6 3 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 3 1 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 5 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 2 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 2 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 0 0 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 1 3 0 0 0 0 4
Department of Hematology, University of Health Sciences 0 2 0 2 0 0 4
GeneReviews 0 0 0 0 0 4 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Johns Hopkins Genomics, Johns Hopkins University 2 0 2 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 2 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 0 0 0 0 4
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 3 0 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Human Genetics, Cologne University 1 1 1 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Clinical Immunology, Karolinska University Hospital 1 1 0 0 0 0 2
Department of Pathology and Genetics, University of Gothenburg 0 2 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
International Fanconi Anemia Registry, The Rockefeller University 0 0 0 0 0 1 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 1 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.