ClinVar Miner

Variants in gene FBN2

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
58 110 2045 1900 518 54 3990

Condition and significance breakdown #

Total conditions: 55
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital contractural arachnodactyly 50 73 1194 1353 349 10 2925
not provided 6 17 752 375 184 1 1274
Familial thoracic aortic aneurysm and aortic dissection 1 14 518 597 46 0 1175
not specified 0 0 89 210 137 0 388
FBN2-related disorder 0 2 59 75 5 0 141
Ehlers-Danlos syndrome 0 1 34 31 36 0 102
Connective tissue disorder 0 0 24 46 24 0 82
Congenital contractural arachnodactyly; Macular degeneration, early-onset 0 2 53 11 4 3 72
Macular degeneration, early-onset 2 2 11 0 4 0 19
Cardiovascular phenotype 0 0 13 3 0 0 16
Malignant tumor of esophagus 0 0 0 0 0 6 6
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 4 4
See cases 1 0 3 0 0 0 4
Thymoma 0 0 0 0 0 4 4
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 3 3
Inborn genetic diseases 0 0 3 0 0 0 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Marfan syndrome 0 0 3 0 0 0 3
Uterine carcinosarcoma 0 0 0 0 0 3 3
Loeys-Dietz syndrome 0 0 2 0 0 0 2
Lung cancer 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Neurodevelopmental abnormality 0 0 0 2 0 0 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Aortic aneurysm, familial thoracic 2 0 0 1 0 0 0 1
Arterial dissection 0 0 1 0 0 0 1
Brain aneurysm 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Congenital heart disease 0 0 0 0 1 0 1
Craniosynostosis syndrome 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, type 4 0 0 1 0 0 0 1
FBN2-related disorders 1 0 0 0 0 0 1
Familial aortopathy 0 1 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Fetal akinesia deformation sequence 1; Neonatal death; Cerebral ischemia 0 1 0 0 0 0 1
Global developmental delay; Short stature; Single transverse palmar crease; Facial asymmetry; Strabismus; Decreased body weight; Ventricular septal defect 0 0 1 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
High myopia 0 0 1 0 0 0 1
Marfan syndrome; Congenital contractural arachnodactyly 0 1 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Nonsyndromic Heritable Thoracic Aortic Aneurysms And Dissections 0 1 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Prostate cancer 0 0 1 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 97
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 34 42 1060 1329 318 0 2783
Ambry Genetics 1 14 527 600 46 0 1188
GeneDx 4 10 598 309 225 0 1146
Illumina Laboratory Services, Illumina 1 0 114 39 95 0 249
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 61 92 94 0 249
PreventionGenetics, part of Exact Sciences 0 2 58 105 51 0 216
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 56 61 62 0 179
CeGaT Center for Human Genetics Tuebingen 1 2 72 87 8 0 170
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 1 47 37 37 0 122
Mayo Clinic Laboratories, Mayo Clinic 1 2 22 17 36 0 78
Breakthrough Genomics, Breakthrough Genomics 0 0 6 48 0 0 54
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 2 9 40 0 0 53
AiLife Diagnostics, AiLife Diagnostics 0 1 47 0 0 0 48
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 21 24 0 46
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 5 32 8 0 45
Fulgent Genetics, Fulgent Genetics 0 0 31 8 4 0 43
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 41 41
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 22 14 0 38
Eurofins Ntd Llc (ga) 0 0 19 7 11 0 37
Genetic Services Laboratory, University of Chicago 0 0 10 17 9 0 36
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 4 29 2 0 35
Revvity Omics, Revvity 0 0 28 0 0 0 28
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 2 1 19 0 22
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 16 1 0 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 14 1 0 0 17
Blueprint Genetics 0 2 12 0 0 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 11 1 0 0 12
3billion 1 2 7 1 0 0 11
OMIM 11 0 0 0 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 10 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 3 4 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 7 0 0 9
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 9 0 0 9
Centre of Medical Genetics, University of Antwerp 0 0 8 0 0 0 8
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 6 0 0 0 8
Mendelics 1 0 2 2 3 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 5 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 0 7 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 0 5 1 0 0 0 6
Baylor Genetics 1 0 4 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 5 0 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 4 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 2 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 2 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 3 0 0 0 3
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 2 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 2 0 0 2
GeneReviews 0 0 0 0 0 2 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 1 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 0 1 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 0 0 1 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
ISCA site 1 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, Polish Academy of Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 1 0 0 0 0 0 1
Liaoning Province Research Institute of Family Planning, China Medical University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Medical Genetics Clinic, Mersin Women and Children Hospital 0 1 0 0 0 0 1
Medical Genetics Department in Dongguan Maternal and Child Healthcare Hospital, Dongguan Maternal and Child Healthcare Hospital 1 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 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.