ClinVar Miner

Variants in gene FANCI

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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
126 139 801 877 142 2 1948

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 107 49 679 797 62 0 1673
Fanconi anemia complementation group I 31 92 211 46 33 2 389
not provided 5 4 41 74 98 0 217
not specified 0 0 45 20 23 0 84
FANCI-related condition 0 3 2 27 1 0 33
Inborn genetic diseases 0 0 25 2 0 0 27
Fanconi anemia complementation group A 0 1 1 3 0 0 5
Immunodeficiency 62 0 0 2 0 0 0 2
Microcephaly 0 0 2 0 0 0 2
Colorectal cancer 0 1 0 0 0 0 1
Gastric cancer 0 1 0 0 0 0 1
Hereditary cancer-predisposing syndrome 0 0 0 1 0 0 1
Malignant tumor of breast 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 105 43 666 792 62 0 1668
Fulgent Genetics, Fulgent Genetics 3 9 120 39 3 0 174
GeneDx 1 1 18 45 93 0 158
Illumina Laboratory Services, Illumina 0 2 89 6 22 0 119
Baylor Genetics 10 84 19 0 0 0 113
Genetic Services Laboratory, University of Chicago 1 0 44 16 7 0 68
Sema4, Sema4 0 2 37 23 4 0 66
PreventionGenetics, part of Exact Sciences 0 3 2 29 13 0 47
CeGaT Center for Human Genetics Tuebingen 2 1 5 20 5 0 33
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 26 0 28
Ambry Genetics 0 0 25 2 0 0 27
Leiden Open Variation Database 24 1 2 0 0 0 27
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 18 0 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 7 1 4 3 0 15
Genome-Nilou Lab 0 0 0 0 8 0 8
Revvity Omics, Revvity 2 0 5 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 7 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 6 0 6
Mendelics 0 1 1 4 0 0 6
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 5 0 0 6
OMIM 4 0 0 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 3 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 1 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 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

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