ClinVar Miner

Variants in gene combination AOPEP, FANCC

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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
95 103 650 493 60 17 1237

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 71 26 314 341 16 0 757
Hereditary cancer-predisposing syndrome 29 9 393 218 6 0 655
Fanconi anemia complementation group C 33 72 183 51 20 3 328
not provided 10 21 186 54 31 4 282
not specified 0 0 39 65 29 12 124
FANCC-related condition 2 4 4 19 2 0 31
Malignant tumor of breast 1 1 14 6 5 0 27
Fanconi anemia complementation group A 1 0 9 11 1 0 22
Ovarian cancer 0 4 0 0 1 0 5
Hereditary breast ovarian cancer syndrome 0 0 2 2 0 0 4
Hereditary cancer 0 0 0 3 0 0 3
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 0 1 2 0 0 3
Carcinoma of colon 0 1 0 0 0 0 1
Familial ovarian cancer 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Premature ovarian failure 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 71 25 299 330 15 0 740
Ambry Genetics 29 9 394 218 6 0 656
GeneDx 9 17 156 85 45 0 312
Natera, Inc. 4 6 146 41 7 0 204
Illumina Laboratory Services, Illumina 0 0 66 19 14 0 99
Fulgent Genetics, Fulgent Genetics 5 5 52 10 0 0 72
Counsyl 0 37 17 5 0 0 59
Baylor Genetics 15 25 11 0 0 0 51
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 8 19 12 7 0 51
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 27 5 8 0 41
Department of Pathology and Laboratory Medicine, Sinai Health System 1 3 20 10 6 0 40
PreventionGenetics, part of Exact Sciences 2 4 4 21 5 0 36
Sema4, Sema4 0 0 19 13 4 0 36
Mendelics 5 1 12 14 2 0 34
Genetic Services Laboratory, University of Chicago 1 0 21 8 3 0 33
Leiden Open Variation Database 15 0 15 2 0 0 32
CeGaT Center for Human Genetics Tuebingen 0 2 3 12 3 0 20
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 4 9 0 13
ITMI 0 0 0 0 0 12 12
Myriad Genetics, Inc. 1 10 0 0 0 0 11
Revvity Omics, Revvity 5 2 3 0 0 0 10
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 9 0 0 0 10
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 8 0 1 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
OMIM 5 0 0 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 1 2 0 0 5
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 4 0 0 1 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 2 0 4
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 0 2 2 0 0 4
Eurofins Ntd Llc (ga) 0 1 0 1 1 0 3
Genome-Nilou Lab 0 0 0 2 1 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 1 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
GeneReviews 0 0 0 0 0 2 2
SNPedia 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer 0 1 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 1
King Fahd Medical Research Center, King Abdulaziz University 0 0 1 0 0 0 1

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