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
83 108 249 116 59 47 556

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 41 10 179 86 34 0 328
Fanconi anemia, complementation group A 45 96 62 6 0 0 203
not specified 1 0 15 28 39 46 109
not provided 4 6 17 5 1 1 34
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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 10 138 68 28 0 281
Counsyl 23 80 49 3 0 0 155
Illumina Clinical Services Laboratory,Illumina 0 1 49 18 6 0 74
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 3 0 14 0 18
Fulgent Genetics 1 4 13 0 0 0 18
GeneDx 3 3 8 2 0 0 16
OMIM 13 0 0 0 0 0 13
Molecular Diagnostics Laboratory,M Health: University of Minnesota 6 7 0 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 3 1 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 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
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
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 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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 1 1

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