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
528 183 745 403 82 47 1761

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 219 58 516 331 61 0 1183
Fanconi anemia, complementation group A 370 128 313 30 36 0 794
not provided 15 12 25 74 1 1 125
not specified 1 0 16 26 43 46 111
Hereditary cancer-predisposing syndrome 0 0 1 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 1
Malignant tumor of breast 0 0 0 0 1 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
Pituitary stalk interruption syndrome 1 0 0 0 0 0 1
Premature ovarian failure 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 215 58 512 366 61 0 1212
Leiden Open Variation Database 343 5 78 1 0 0 427
Natera, Inc. 16 1 99 12 30 0 158
Counsyl 22 80 51 3 0 0 156
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 12 10 4 0 34
Baylor Genetics 2 2 26 0 0 0 30
Myriad Women's Health, Inc. 1 25 0 0 0 0 26
CeGaT Praxis fuer Humangenetik Tuebingen 6 6 7 4 0 0 23
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 Fairview: 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
Department of Medical Genetics,Faculty of Medicine, Istanbul University 0 2 4 0 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 0 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 1 0 3
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 1 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Lineagen, Inc 1 0 0 0 0 0 1
GeneReviews 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 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
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 1
Caryl and Israel Englander Institute for Precision Medicine,Weill Cornell Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 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
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 1 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 0 1
Nilou-Genome Lab 0 0 1 0 0 0 1
Human Developmental Genetics,Institut Pasteur 1 0 0 0 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf 0 0 1 0 0 0 1

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