ClinVar Miner

Variants in gene FANCI

See also:
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
165 191 1029 1003 150 52 2400

Condition and significance breakdown #

Total conditions: 32
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 144 56 750 910 67 0 1908
Fanconi anemia complementation group I 35 139 377 52 39 4 611
not provided 9 8 75 94 102 0 281
Inborn genetic diseases 0 0 121 9 0 0 130
not specified 0 0 51 24 24 0 95
FANCI-related disorder 0 3 4 29 1 0 37
Gastric cancer 0 1 0 0 0 7 8
Fanconi anemia complementation group A 0 2 1 3 0 0 6
Melanoma 0 0 0 0 0 6 6
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 5 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Sarcoma 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 3 3
Colorectal cancer 0 1 0 0 0 1 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Hereditary cancer-predisposing syndrome 0 0 0 2 0 0 2
Immunodeficiency 62 0 0 2 0 0 0 2
Microcephaly 0 0 2 0 0 0 2
Neoplasm 0 0 2 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Fetal anomalies with a likely genetic cause 0 1 0 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of breast 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 58
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 140 49 741 905 67 0 1902
Fulgent Genetics, Fulgent Genetics 5 43 290 41 3 0 382
GeneDx 2 2 37 45 95 0 181
Baylor Genetics 12 103 19 0 0 0 134
Ambry Genetics 0 0 121 9 0 0 130
Illumina Laboratory Services, Illumina 0 2 85 6 24 0 117
Breakthrough Genomics, Breakthrough Genomics 0 0 11 19 46 0 76
Genetic Services Laboratory, University of Chicago 1 1 46 16 7 0 71
Sema4, Sema4 0 2 37 23 4 0 66
CeGaT Center for Human Genetics Tuebingen 2 2 9 41 3 0 57
PreventionGenetics, part of Exact Sciences 0 3 4 31 14 0 52
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 48 48
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 31 0 34
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 9 9 4 3 0 28
Leiden Open Variation Database 23 1 2 0 0 0 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 4 19 0 25
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 18 0 0 0 18
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 6 5 0 12
Revvity Omics, Revvity 3 1 6 0 0 0 10
Genome-Nilou Lab 0 0 0 0 9 0 9
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 7 0 0 7
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 5 1 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 1 1 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 2 0 6
Mendelics 0 1 1 4 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 2 3 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 0 0 5
Dasa 1 0 2 0 1 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 2 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
OMIM 3 0 0 0 0 0 3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 1 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
3billion 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 0 1
Division of Gastroenterology and Hepatology, Shanghai Institute of Digestive Disease, Shanghai Jiao Tong University School of Medicine. 0 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 1 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 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.