ClinVar Miner

Variants in gene combination FANCD2, LOC107303338

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Minimum submission review status: Collection method:
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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
102 95 425 519 137 14 1157

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 78 31 337 443 41 0 915
Fanconi anemia complementation group D2 34 59 105 41 38 1 259
not provided 5 10 40 61 85 0 192
not specified 0 0 38 24 38 13 95
Hereditary breast ovarian cancer syndrome 0 0 1 19 36 0 56
FANCD2-related condition 0 3 3 27 2 0 35
Inborn genetic diseases 2 0 17 0 0 0 19
Fanconi anemia complementation group A 0 0 0 6 8 0 14
Ovarian cancer 0 4 0 0 2 0 6
Acute myeloid leukemia 1 0 0 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 1
Malignant tumor of breast 0 0 1 0 0 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 1
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 77 23 315 430 40 0 885
GeneDx 2 7 20 30 82 0 141
Fulgent Genetics, Fulgent Genetics 4 9 48 29 1 0 91
Illumina Laboratory Services, Illumina 0 0 47 8 24 0 79
Sema4, Sema4 1 2 27 31 7 0 68
Baylor Genetics 8 45 13 0 0 0 66
PreventionGenetics, part of Exact Sciences 0 3 3 32 21 0 59
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 0 0 1 19 36 0 56
Genetic Services Laboratory, University of Chicago 2 0 28 14 9 0 53
CeGaT Center for Human Genetics Tuebingen 2 3 6 20 1 0 32
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 5 24 0 29
Leiden Open Variation Database 24 0 3 0 0 0 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 5 4 4 5 0 21
Ambry Genetics 2 0 17 0 0 0 19
Revvity Omics, Revvity 9 6 2 0 0 0 17
Mendelics 1 0 2 6 8 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 14 0 15
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 14 0 1 0 15
ITMI 0 0 0 0 0 13 13
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 12 1 0 13
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 7 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 6 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 3 3 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 1 0 6
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 4 0 0 2 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 3 1 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 2 0 4
OMIM 3 0 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 1 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 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
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 0 1 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center 1 0 0 0 0 0 1

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