ClinVar Miner

Variants studied for Fanconi anemia, complementation group A

Coded as:
Minimum submission review status: Collection method:
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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
460 166 454 74 93 1 1140

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FANCA 373 133 320 31 57 1 826
FANCA, ZNF276 59 22 88 8 20 0 182
AOPEP, FANCC 1 0 11 9 1 0 22
FANCA, LOC112486223 9 7 6 1 3 0 22
SLX4 2 2 11 2 2 0 19
FANCC 1 0 5 10 1 0 17
FANCD2, LOC107303338 0 0 0 6 8 0 14
​intergenic 9 0 0 0 0 0 9
FANCM 0 1 5 2 0 0 8
FANCI 0 1 1 3 0 0 5
FANCL, VRK2 0 0 3 1 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
FANCB 0 0 0 1 0 0 1
FANCD2 1 0 0 0 0 0 1
FANCL 1 0 0 0 0 0 1
LOC112486220 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Leiden Open Variation Database 419 6 90 1 0 0 516
Counsyl 27 101 66 4 0 0 198
Illumina Clinical Services Laboratory,Illumina 0 1 133 18 41 0 193
Natera, Inc. 19 1 114 16 39 0 189
Mendelics 7 5 45 36 13 0 106
Nilou-Genome Lab 0 0 13 3 33 0 49
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 4 6 15 0 0 0 25
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
Istanbul Faculty of Medicine, Istanbul University 0 2 5 0 0 0 7
GeneReviews 4 0 0 0 0 0 4
Department of Hematology,University of Health Sciences 0 2 0 2 0 0 4
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 0 3 0 0 0 0 3
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 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, Amsterdam University Medical Center 0 0 0 1 1 0 2
Department of Pathology and Genetics,University of Gothenburg 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 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
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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
International Fanconi Anemia Registry,The Rockefeller University 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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