ClinVar Miner

Variants in gene FANCA

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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
171 123 401 231 78 47 910

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 131 26 272 129 58 0 614
Fanconi anemia, complementation group A 47 96 150 20 24 0 326
not provided 12 9 19 73 1 1 115
not specified 1 0 16 28 39 46 110
Inborn genetic diseases 0 0 1 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Neuroblastoma 0 0 1 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 127 26 268 195 58 0 674
Counsyl 23 80 51 3 0 0 157
Illumina Clinical Services Laboratory,Illumina 0 1 94 13 24 0 132
PreventionGenetics,PreventionGenetics 0 0 0 16 38 0 54
ITMI 0 0 0 0 0 46 46
Genetic Services Laboratory, University of Chicago 5 3 13 12 1 0 34
CeGaT Praxis fuer Humangenetik Tuebingen 6 5 5 3 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 3 0 14 0 18
GeneDx 4 4 8 2 0 0 18
Fulgent Genetics,Fulgent Genetics 1 4 13 0 0 0 18
Molecular Diagnostics Laboratory, M Health: University of Minnesota 6 9 0 0 0 0 15
OMIM 13 0 0 0 0 0 13
Mendelics 2 0 3 2 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 4 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 2 1 1 0 5
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
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Ambry Genetics 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 1
Lineagen, Inc 1 0 0 0 0 0 1
GeneReviews 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Caryl and Israel Englander Institute for Precision Medicine,Weill Cornell Medicine 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 0 0 1
Department of Pathology and Genetics,University of Gothenburg 0 1 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 1 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1

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