ClinVar Miner

Variants studied for Marfan syndrome

Coded as:
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
709 975 1347 583 104 4 3411

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 678 938 1266 558 94 4 3242
FBN1, LOC126862124 16 16 22 7 3 0 57
FBN1, LOC113939944 8 13 25 9 1 0 50
FBN1, LOC130057019 2 4 11 3 2 0 20
TGFBR2 1 1 0 1 4 0 7
FBN1, LOC130057020 0 0 5 1 0 0 6
COL5A2 0 0 4 0 0 0 4
FBN2 0 0 3 0 0 0 3
LTBP2 1 0 1 0 0 0 2
MYH11 0 0 2 0 0 0 2
NOTCH1 0 0 1 1 0 0 2
TGFBR1 0 1 1 0 0 0 2
ACTA2 1 0 0 0 0 0 1
CEP152, EID1, FBN1, SECISBP2L, SHC4 1 0 0 0 0 0 1
CEP152, FBN1, FBN1-DT, LOC113939944, LOC125078076, LOC126862125, LOC130057018, LOC130057019, LOC130057020, LOC130057021, LOC130057022, LOC130057023 1 0 0 0 0 0 1
COL11A1 0 0 1 0 0 0 1
COL2A1 0 1 0 0 0 0 1
COL3A1 0 0 1 0 0 0 1
COL5A1 0 0 0 1 0 0 1
COL5A1, LOC101448202 0 0 1 0 0 0 1
COL9A1 0 0 0 1 0 0 1
CTXN2, DUT, FBN1, MYEF2, SEMA6D, SLC12A1, SLC24A5 1 0 0 0 0 0 1
FBN1, LOC113939944, LOC125078076, LOC126862124, LOC126862125, LOC130057018, LOC130057019 1 0 0 0 0 0 1
FLII 0 0 1 0 0 0 1
FLNA 0 0 1 0 0 0 1
LOC130002223, TGFBR1 0 0 0 1 0 0 1
MYLK 0 0 1 0 0 0 1
TGFB2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 140
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
All of Us Research Program, National Institutes of Health 13 24 952 511 40 0 1540
Center for Medical Genetics Ghent, University of Ghent 172 352 175 14 0 0 712
Centre of Medical Genetics, University of Antwerp 170 110 14 0 0 0 294
Illumina Laboratory Services, Illumina 2 2 95 50 52 0 201
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 66 103 2 0 0 0 171
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 43 51 16 3 7 0 120
Center for Human Genetics, Inc, Center for Human Genetics, Inc 33 34 23 17 0 0 107
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 35 15 7 15 0 77
Department of Laboratory Medicine and Genetics, Samsung Medical Center 17 26 28 0 0 0 71
3billion 23 29 18 0 0 0 70
Blueprint Genetics 9 35 13 1 0 0 58
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 35 10 12 1 0 0 58
Mendelics 16 13 4 6 9 0 48
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 25 21 1 0 0 0 47
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 34 9 3 0 0 0 46
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 10 9 17 3 0 0 39
Juno Genomics, Hangzhou Juno Genomics, Inc 17 16 1 0 0 0 34
OMIM 31 0 1 0 0 0 32
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 11 11 3 1 0 0 26
Labcorp Genetics (formerly Invitae), Labcorp 23 2 0 0 0 0 25
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 11 7 1 2 2 0 23
Institute of Human Genetics, University of Leipzig Medical Center 7 10 5 1 0 0 23
CSER _CC_NCGL, University of Washington 0 0 14 6 1 0 21
Clinical and Biomedical Sciences, University of Exeter 9 5 6 0 0 0 20
Institute of Human Genetics, Cologne University 7 8 5 0 0 0 20
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 14 1 0 0 0 20
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 9 5 5 0 0 0 19
deCODE genetics, Amgen 7 12 0 0 0 0 19
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 12 6 0 0 0 0 18
Baylor Genetics 7 2 8 0 0 0 17
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 3 10 2 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 4 7 4 0 0 0 15
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 5 6 3 0 0 0 14
MGZ Medical Genetics Center 1 7 6 0 0 0 14
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 8 5 0 0 0 0 13
Institute of Human Genetics Munich, TUM University Hospital 9 4 0 0 0 0 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 4 6 0 0 0 12
MVZ Medizinische Genetik Mainz 2 5 5 0 0 0 12
Cohesion Phenomics 0 0 0 6 4 0 10
Centre of Medical Genetics, University Hospital Muenster 1 2 4 2 0 0 9
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 5 4 0 0 0 0 9
Variantyx, Inc. 5 4 0 0 0 0 9
Clinical Genetics Laboratory, Skane University Hospital Lund 4 4 0 0 0 0 8
Dasa 6 1 1 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 3 0 1 0 0 8
Genetics and Molecular Pathology, SA Pathology 2 3 3 0 0 0 8
Department of Human Genetics, Hannover Medical School 1 5 1 0 0 0 7
Johns Hopkins Genomics, Johns Hopkins University 1 1 4 1 0 0 7
Human Genetics Bochum, Ruhr University Bochum 2 3 1 0 0 0 6
Human Genetics Unit, University Of Colombo 5 1 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 4 1 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 5 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 1 2 0 2 1 0 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 2 0 0 0 0 5
Clinical Genetics Laboratory, Region Ostergotland 1 4 0 0 0 0 5
Clinical Genetics and Genomics, Karolinska University Hospital 2 3 0 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 3 0 5
Suma Genomics 3 2 0 0 0 0 5
Zhou Lab, Center of Laboratory Medicine, Fuwai Hospital 5 0 0 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 3 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 2 1 0 0 0 4
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 2 1 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 2 0 1 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 2 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 0 0 0 0 0 3
Department of Medical Genetics, Gazi University 3 0 0 0 0 0 3
Elahi Laboratory, University of Tehran 2 0 1 0 0 0 3
Heart Medical Centre, First Affiliated Hospital of Gannan Medical University 3 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 3
New York Genome Center 0 1 2 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 1 1 0 0 3
Undiagnosed Diseases Network, NIH 2 1 0 0 0 0 3
Arcensus 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 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
Dr.Nikuei Genetic Center 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Healthincode, Healthincode group 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 2
MNM Diagnostics 1 0 0 1 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 0 0 0 2
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Yu Lab, Soochow University 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Center of Clinical Laboratory, Zhongshan Hospital, School of Medicine, Xiamen University 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Department of Endocrinology, The Second Affiliated Hospital of Guangdong Medical University 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Division of Clinical Genetics, Department of Laboratory Medicine, University of Debrecen 1 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Friuli Venezia Giulia Coordinating Center for Rare Diseases, National Health Service, Italy 1 0 0 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Health in Code S.L. 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 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
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 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
Senckenberg Centre for Human Genetics, Bürgerhospital und Clementine Kinderhospital gGmbH 1 0 0 0 0 0 1
Swedish National ChiCaP Initative, Genomic Medicine Sweden 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1

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