ClinVar Miner

Variants in gene FBN2

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
26 26 586 364 141 1 986

Condition and significance breakdown #

Total conditions: 21
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital contractural arachnodactyly 14 11 288 156 85 0 496
not specified 0 0 34 175 121 0 294
not provided 5 8 242 15 27 1 293
Cardiovascular phenotype 2 5 113 99 39 0 258
Connective tissue disorder 0 0 8 40 0 0 48
Congenital contractural arachnodactyly; Macular degeneration, early-onset 0 0 12 0 0 0 12
Thoracic aortic aneurysm and aortic dissection 0 0 8 1 0 0 9
See cases 3 0 2 0 0 0 5
Inborn genetic diseases 0 0 3 0 0 0 3
Macular degeneration, early-onset 2 0 1 0 0 0 3
Loeys-Dietz syndrome 0 0 2 0 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 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, type 4 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
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: 36
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 7 8 225 132 113 0 485
Invitae 2 4 226 74 67 0 373
Ambry Genetics 2 5 116 100 39 0 262
Illumina Clinical Services Laboratory,Illumina 0 0 71 88 16 0 175
PreventionGenetics 0 0 0 31 48 0 79
Center for Human Genetics, Inc 2 2 10 41 0 0 55
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 15 6 27 0 48
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 1 1 20 0 22
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 16 5 0 0 21
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
OMIM 11 0 0 0 0 0 11
Blueprint Genetics, 0 1 10 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 7 0 0 0 8
Fulgent Genetics 0 0 7 0 0 0 7
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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
Division of Genomic Diagnostics,The 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,Institute of Human Genetics 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
GenomeConnect, ClinGen 0 0 0 0 0 1 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

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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.