ClinVar Miner

Variants in gene FBN2

Minimum submission review status: Collection method:
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Gene type:
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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
32 43 893 511 225 3 1517

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital contractural arachnodactyly 20 21 608 221 121 2 948
not provided 6 11 267 144 81 1 500
not specified 0 0 40 179 122 0 303
Cardiovascular phenotype 1 5 108 105 39 0 258
none provided 0 0 6 19 36 0 61
Connective tissue disease 0 0 8 40 0 0 48
Congenital contractural arachnodactyly; Macular degeneration, early-onset 0 0 15 0 0 0 15
Macular degeneration, early-onset 2 2 6 0 0 0 10
Familial thoracic aortic aneurysm and aortic dissection 0 0 8 1 0 0 9
Inborn genetic diseases 0 1 5 0 0 0 6
See cases 3 0 2 0 0 0 5
Loeys-Dietz syndrome 0 0 2 0 0 0 2
Neurodevelopmental abnormality 0 0 0 2 0 0 2
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
Craniosynostosis syndrome 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, type 4 0 0 1 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
Malignant tumor of prostate 0 0 1 0 0 0 1
Marfan syndrome 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
Neonatal death; Fetal akinesia sequence; Cerebral ischemia 0 1 0 0 0 0 1
Severe Myopia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 14 494 230 77 0 821
GeneDx 7 8 225 189 170 0 599
Illumina Clinical Services Laboratory,Illumina 1 0 124 45 99 0 269
Ambry Genetics 1 6 113 106 39 0 265
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 25 30 49 0 104
PreventionGenetics, PreventionGenetics 0 0 0 31 48 0 79
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 2 10 41 0 0 55
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 38 10 0 0 50
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 23 7 11 0 41
Genetic Services Laboratory, University of Chicago 0 0 9 18 9 0 36
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 5 19 0 24
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 1 20 0 23
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 18 0 18
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 13 0 17
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 12 5 0 17
Blueprint Genetics 0 2 14 0 0 0 16
OMIM 11 0 0 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 10 0 0 0 11
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 5 0 0 0 7
Baylor Genetics 1 0 5 0 0 0 6
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
Mendelics 0 0 0 2 2 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
GeneReviews 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
ISCA site 6 1 0 0 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Medical Genetics Clinic,Mersin Women and Children Hospital 0 1 0 0 0 0 1
Institute of Human Genetics,Polish Academy of Sciences 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1

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