ClinVar Miner

Variants in gene FBN1

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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
2164 1566 2521 1826 368 19 7118

Condition and significance breakdown #

Total conditions: 88
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 1442 361 1031 1272 164 0 4270
Familial thoracic aortic aneurysm and aortic dissection 237 232 1124 722 93 0 2274
not provided 350 284 636 351 170 2 1699
Marfan syndrome 562 773 412 95 66 4 1698
not specified 22 7 282 248 104 2 626
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 22 17 210 20 1 0 269
Acromicric dysplasia 11 3 106 37 82 0 239
Stiff skin syndrome 6 1 102 36 82 0 227
Weill-Marchesani syndrome 0 1 100 43 75 0 219
Ectopia lentis 1, isolated, autosomal dominant 5 0 76 25 81 0 187
Geleophysic dysplasia 0 1 48 43 82 0 174
FBN1-related condition 13 10 43 71 6 0 143
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 48 94 0 0 0 0 142
Isolated thoracic aortic aneurysm 0 46 16 0 0 0 62
Connective tissue disorder 5 4 16 23 10 0 55
Cardiovascular phenotype 19 9 18 6 0 0 52
MASS syndrome 3 2 28 11 0 0 44
Ectopia lentis 0 0 27 11 1 0 39
Progeroid and marfanoid aspect-lipodystrophy syndrome 13 3 12 0 0 0 27
Inborn genetic diseases 8 1 6 0 0 0 15
Congenital aneurysm of ascending aorta; Acute aortic dissection 0 5 5 2 0 0 12
Weill-Marchesani syndrome 2, dominant 4 2 3 0 0 0 9
Congenital scoliosis 2 0 6 0 0 0 8
Geleophysic dysplasia 2 5 2 2 0 0 0 8
Neonatal Marfan syndrome 8 0 0 0 0 0 8
See cases 3 1 4 0 0 0 8
Abnormality of connective tissue 2 3 0 0 0 0 5
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Familial thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 4 4
FBN1-Related Disorders 0 0 2 0 0 1 3
Familial ectopia lentis 2 1 0 0 0 0 3
Arthrogryposis, renal dysfunction, and cholestasis 1 1 0 1 0 0 0 2
FBN1-related disorder 0 1 0 0 0 1 2
Familial aortopathy 0 2 0 0 0 0 2
Loeys-Dietz syndrome 1 0 1 0 0 0 2
Marfan syndrome, atypical 2 0 0 0 0 0 2
Marfan syndrome, autosomal recessive 2 0 0 0 0 0 2
Perrault syndrome 1 1 1 0 0 0 0 2
Achondroplasia 0 1 0 0 0 0 1
Acromicric dysplasia; Geleophysic dysplasia 2 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 2 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 6 0 0 1 0 0 0 1
Aortic dissection 0 0 1 0 0 0 1
Ascending tubular aorta aneurysm; Scoliosis; Tall stature; Joint hypermobility; High myopia; Aortic aneurysm 1 0 0 0 0 0 1
Brugada syndrome 1 1 0 0 0 0 0 1
Congenital diaphragmatic hernia 0 1 0 0 0 0 1
Connective tissue dysplasia 1 0 0 0 0 0 1
Craniosynostosis syndrome 0 0 1 0 0 0 1
Dental crowding; Arachnodactyly; Dolichocephaly; Joint hypermobility; Aortic regurgitation; High, narrow palate 0 0 1 0 0 0 1
Developmental cataract 0 0 1 0 0 0 1
Disproportionate tall stature 0 0 1 0 0 0 1
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Weill-Marchesani syndrome 2, dominant; Familial thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 1 1
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 0 0 1 0 0 0 1
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Familial thoracic aortic aneurysm and aortic dissection; Progeroid and marfanoid aspect-lipodystrophy syndrome 0 0 0 0 0 1 1
FBN1-related disease 0 1 0 0 0 0 1
FNB1 POLYMORPHISM 0 0 0 0 1 0 1
Heart disease 0 0 1 0 0 0 1
High palate; Arachnodactyly; Lens subluxation; Aortic dissection 1 0 0 0 0 0 1
High palate; Disproportionate tall stature; Mitral valve prolapse; Lumbar scoliosis; Myxomatous mitral valve degeneration 1 0 0 0 0 0 1
Hirschsprung disease, susceptibility to, 1 0 0 1 0 0 0 1
Ischemic stroke; Arachnodactyly; Aortic root aneurysm; Dissecting aortic dilatation; Melanoma; High myopia; Ectopia lentis 1 0 0 0 0 0 1
Marfan syndrome, incomplete 0 0 1 0 0 0 1
Marfan syndrome, mild 1 0 0 0 0 0 1
Marfan syndrome, mild variable 1 0 0 0 0 0 1
Marfan syndrome, severe classic 1 0 0 0 0 0 1
Marfan syndrome; Congenital contractural arachnodactyly 0 1 0 0 0 0 1
Marfan syndrome; Left ventricular diastolic dysfunction 0 1 0 0 0 0 1
Marfan syndrome; MASS syndrome; Congenital aneurysm of ascending aorta; Weill-Marchesani syndrome; Ectopia lentis 0 0 0 0 0 1 1
Marfan syndrome; MASS syndrome; Stiff skin syndrome; Familial thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 1 1
Marfan syndrome; MASS syndrome; Stiff skin syndrome; Isolated ectopia lentis 0 0 0 0 0 1 1
Marfan syndrome; Progeroid and marfanoid aspect-lipodystrophy syndrome 1 0 0 0 0 0 1
Metaphyseal chondrodysplasia 1 0 0 0 0 0 1
Mitral regurgitation; Aortic dissection; Ectopia lentis 0 1 0 0 0 0 1
Myopathy 0 1 0 0 0 0 1
Osteoporosis 0 0 1 0 0 0 1
Pectus excavatum; Inguinal hernia; Tall stature; Myopia; Joint hypermobility 1 0 0 0 0 0 1
Pes planus; Arachnodactyly; Mitral valve prolapse; Lens luxation; Aortic aneurysm 0 0 1 0 0 0 1
Polycystic liver disease 1; Aortic dilatation; Aortic dissection; Ascending aortic dissection 0 1 0 0 0 0 1
Primary dilated cardiomyopathy 0 1 0 0 0 0 1
Progressive congenital scoliosis 0 0 1 0 0 0 1
Protrusio acetabuli; Dental crowding; High palate; Tall stature; Mitral regurgitation; Aortic root aneurysm; Ectopia lentis 0 1 0 0 0 0 1
Scoliosis; High palate; Pes planus; Myopia; Dolichocephaly; Mitral valve prolapse; Dilatation of the ascending aorta 1 0 0 0 0 0 1
Scoliosis; Pes planus; Myopia; Pectus carinatum; Striae distensae; Mitral valve prolapse; Aortic root aneurysm; Pes valgus; Ectopia lentis 1 0 0 0 0 0 1
Short stature; Wide mouth; Wide nasal bridge; Relative macrocephaly 0 1 0 0 0 0 1
Striae distensae; Mitral valve prolapse; Pulmonary artery dilatation 0 1 0 0 0 0 1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 1 0 0 0 0 1
Tall stature; Myopia; Pectus carinatum; Lens subluxation 0 1 0 0 0 0 1
Thoracic aortic disease 1 0 0 0 0 0 1
Vascular dilatation 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 153
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1447 362 1031 1280 164 0 4284
GeneDx 280 191 413 328 182 0 1394
Color Diagnostics, LLC DBA Color Health 6 8 735 549 66 0 1364
Ambry Genetics 234 162 313 293 30 0 1032
Center for Medical Genetics Ghent, University of Ghent 163 339 168 12 0 0 681
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 55 134 277 117 43 0 626
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 35 72 113 52 33 0 305
Centre of Medical Genetics, University of Antwerp 164 107 14 0 0 0 285
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 50 82 68 24 28 2 254
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 45 28 66 57 49 0 245
Fulgent Genetics, Fulgent Genetics 13 9 197 18 0 0 237
Illumina Laboratory Services, Illumina 2 2 150 97 82 0 228
PreventionGenetics, part of Exact Sciences 13 10 43 96 34 0 196
CeGaT Center for Human Genetics Tuebingen 26 17 46 82 19 0 190
Center for Human Genetics, Inc, Center for Human Genetics, Inc 32 34 27 27 0 0 120
Blueprint Genetics 18 60 22 2 0 0 102
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 26 31 9 3 6 0 75
Eurofins Ntd Llc (ga) 8 0 38 7 16 0 69
OMIM 65 0 1 0 1 0 67
Department of Vascular Biology, Beijing Anzhen Hospital 0 46 16 0 0 0 62
Revvity Omics, Revvity 6 11 39 0 0 0 56
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 1 7 14 29 0 54
Mendelics 20 14 8 5 6 0 53
Mayo Clinic Laboratories, Mayo Clinic 19 12 20 0 0 0 51
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 15 13 15 4 2 0 49
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 2 10 26 9 0 49
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 25 21 2 0 0 0 48
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 31 9 4 0 0 0 44
Genome Diagnostics Laboratory, The Hospital for Sick Children 4 4 12 11 10 0 41
Centre for Mendelian Genomics, University Medical Centre Ljubljana 15 8 9 0 0 0 31
3billion 8 14 9 0 0 0 31
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 12 14 3 1 0 0 30
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 6 5 1 0 0 25
AiLife Diagnostics, AiLife Diagnostics 3 1 21 0 0 0 25
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 2 2 11 7 0 23
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 14 9 0 0 0 0 23
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 10 9 3 1 0 0 23
Clinical Genetics and Genomics, Karolinska University Hospital 12 9 1 0 0 0 22
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 7 14 1 0 0 0 22
Institute of Human Genetics, University of Leipzig Medical Center 6 7 6 1 0 0 20
Baylor Genetics 6 2 11 0 0 0 19
CSER _CC_NCGL, University of Washington 0 0 12 6 1 0 19
Centre for Genomic and Experimental Medicine, University of Edinburgh 9 10 0 0 0 0 19
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 10 5 3 0 0 0 18
deCODE genetics, Amgen 7 11 0 0 0 0 18
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 3 8 1 0 15
Institute of Human Genetics, University Hospital Muenster 5 2 7 1 0 0 15
Institute of Human Genetics, Cologne University 3 7 3 0 0 0 13
MGZ Medical Genetics Center 1 6 6 0 0 0 13
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 4 6 3 0 13
University of Washington Center for Mendelian Genomics, University of Washington 0 5 5 2 0 0 12
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 4 2 6 0 0 0 12
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 4 5 0 0 0 11
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 11 0 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 5 5 0 0 0 11
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 8 2 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 10 10
Cohesion Phenomics 0 0 0 6 4 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 4 0 0 0 5 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 1 0 0 0 0 9
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 5 4 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 1 4 0 8
Johns Hopkins Genomics, Johns Hopkins University 1 1 5 1 0 0 8
DASA 5 3 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 1 4 2 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Suma Genomics 5 1 1 0 0 0 7
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 3 2 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 4 0 0 0 6
Genetic Services Laboratory, University of Chicago 1 0 0 3 2 0 6
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 4 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 5 0 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 3 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 2 0 0 0 0 5
Zhou Lab, Center of Laboratory Medicine, Fuwai Hospital 5 0 0 0 0 0 5
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute 2 2 1 0 0 0 5
Clinical Genetics Laboratory, Region Ostergotland 1 3 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 2 1 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Human Genetics Bochum, Ruhr University Bochum 1 3 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 3
Department of Medical Genetics, Gazi University 3 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 1 1 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 2 0 0 0 0 3
Heart Medical Centre, First Affiliated Hospital of Gannan Medical University 3 0 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 1 1 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 1 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 1 0 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 2 0 0 0 0 0 2
Shen lab, Soochow University 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Arcensus 1 1 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Health in Code S.L. 1 0 0 0 0 0 1
Elahi Laboratory, University of Tehran 1 0 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 1 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Centro de Tecnologia Celular, Instituto Nacional de Cardiologia 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Pediatric Department, The First Affiliated Hospital of Guangxi Medical University 1 0 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Center of Clinical Laboratory, Zhongshan Hospital, School of Medicine, Xiamen University 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 0 1 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Health Biotechnology Lab, Department of Biotechnology, Abdul Wali Khan University Mardan 0 1 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Division of Clinical Genetics, Department of Laboratory Medicine, University of Debrecen 1 0 0 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 1 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 1 0 0 0 1
Senckenberg Centre for Human Genetics, Bürgerhospital und Clementine Kinderhospital gGmbH 1 0 0 0 0 0 1

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