ClinVar Miner

Variants studied for Marfan and Marfan-related disorder

Included ClinVar conditions (33):
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
2099 1359 4626 3736 704 24 11524

Gene and significance breakdown #

Total genes and gene combinations: 52
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 1810 1113 1874 1465 204 13 5734
FBN2 41 55 899 1034 306 6 2226
SKI 19 10 320 349 34 0 705
TGFB2 54 23 223 141 37 1 451
TGFBR2 26 34 245 130 19 2 427
TGFB3 36 22 198 151 14 1 416
TMPO 0 0 251 119 21 0 391
SMAD3 17 29 205 124 15 1 373
TGFBR1 10 25 226 96 14 0 358
FBN1, LOC126862124 33 17 29 29 4 0 96
FBN1, LOC113939944 28 17 38 19 3 0 92
FBN2, LOC126807501 0 0 28 39 10 0 72
TGFB2, TGFB2-OT1 0 0 16 4 12 0 32
FBN1, LOC130057019 7 3 15 9 4 0 31
LOC130008520, TMPO 0 0 12 16 1 0 29
LOC130057352, SMAD3 1 3 8 6 4 0 20
SMAD2 7 3 2 0 1 0 13
FBN1, LOC130057020 0 0 7 1 0 0 8
COL5A2 0 0 5 0 0 0 5
LOC129936399, TGFBR2 0 0 4 0 1 0 5
LOC130002223, TGFBR1 0 0 4 1 0 0 5
COL3A1 0 1 2 0 0 0 3
MYH11 0 0 3 0 0 0 3
COL5A1, LOC101448202 0 0 2 0 0 0 2
CTXN2, DUT, FBN1, MYEF2, SLC12A1, SLC24A5 2 0 0 0 0 0 2
FBN1, LOC113939944, LOC125078076, LOC126862124, LOC126862125, LOC130057018, LOC130057019 2 0 0 0 0 0 2
FBN2, LOC126807502 0 0 2 0 0 0 2
LOC130056139, TGFB3 0 2 0 0 0 0 2
LTBP2 1 0 1 0 0 0 2
MYLK 0 0 2 0 0 0 2
NOTCH1 0 0 1 1 0 0 2
ACAP3, ACTRT2, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 0 0 1 0 0 0 1
AIDA, BPNT1, BROX, C1orf115, DISP1, DUSP10, EPRS1, ESRRG, FAM177B, GPATCH2, HHIPL2, HLX, IARS2, KCNK2, KCTD3, LYPLAL1, MARK1, MIA3, MIR194-1, MIR215, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SPATA17, TAF1A, TGFB2, USH2A 1 0 0 0 0 0 1
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HLX, IARS2, KCTD3, LYPLAL1, MARK1, MIR194-1, MIR215, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SPATA17, TGFB2, USH2A 1 0 0 0 0 0 1
BPNT1, EPRS1, ESRRG, GPATCH2, LYPLAL1, RRP15, SLC30A10, SPATA17, TGFB2, USH2A 1 0 0 0 0 0 1
CEP152, FBN1 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
COL2A1 0 1 0 0 0 0 1
COL5A1 0 0 0 1 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
EPRS1, ESRRG, GPATCH2, LYPLAL1, RRP15, SLC30A10, SPATA17, TGFB2 1 0 0 0 0 0 1
ESRRG, GPATCH2, LYPLAL1, RRP15, SPATA17, TGFB2 1 0 0 0 0 0 1
FBN1, LOC113939944, LOC125078076, LOC126862124, LOC126862125 1 0 0 0 0 0 1
FBN1, LOC113939944, LOC126862125, LOC130057018 0 1 0 0 0 0 1
FBN1, LOC113939944, LOC126862125, LOC130057018, LOC130057019 1 0 0 0 0 0 1
FBN1, LOC125078076 1 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 1
GPATCH2, RRP15, SPATA17, TGFB2 1 0 0 0 0 0 1
LOC112577524, LOC121967049, LOC126805579, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, SKI 0 0 1 0 0 0 1
RRP15, TGFB2 1 0 0 0 0 0 1
SMAD6 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 142
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1620 448 2726 3114 538 0 8446
All of Us Research Program, National Institutes of Health 10 21 1119 656 52 0 1858
Illumina Laboratory Services, Illumina 3 1 604 232 225 0 1054
Center for Medical Genetics Ghent, University of Ghent 172 352 175 14 0 0 712
Fulgent Genetics, Fulgent Genetics 16 11 356 45 7 0 435
Centre of Medical Genetics, University of Antwerp 170 112 17 0 0 0 299
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 73 113 2 0 0 0 188
Center for Human Genetics, Inc, Center for Human Genetics, Inc 36 37 26 18 1 0 118
OMIM 110 0 1 0 0 0 111
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 45 21 7 19 0 102
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 17 16 48 7 3 0 90
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 29 34 11 3 7 0 84
Blueprint Genetics 9 49 20 1 0 0 79
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 15 24 27 0 69
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 19 15 28 3 0 0 65
Mendelics 16 15 4 10 12 0 57
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
Baylor Genetics 11 6 22 0 0 0 39
3billion 9 19 11 0 0 0 39
MGZ Medical Genetics Center 2 16 13 1 0 0 32
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 13 11 3 1 0 0 28
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 8 14 5 0 0 0 27
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 10 6 10 0 0 0 26
Institute of Human Genetics, University of Leipzig Medical Center 6 10 9 1 0 0 26
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 5 21 0 26
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 16 3 1 0 25
CSER _CC_NCGL, University of Washington 0 0 16 6 1 0 23
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 19 0 0 0 0 23
deCODE genetics, Amgen 8 15 0 0 0 0 23
Institute of Human Genetics, Cologne University 4 10 7 0 0 0 21
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 15 0 19
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 12 7 0 0 0 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 12 6 0 18
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 6 7 0 0 0 17
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 16 1 0 0 0 0 17
Revvity Omics, Revvity 0 1 15 0 0 0 16
GenomeConnect, ClinGen 0 0 0 0 0 13 13
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 6 5 0 0 0 13
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 9 3 0 0 0 0 12
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 6 2 3 0 11
Genetics and Molecular Pathology, SA Pathology 2 4 5 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 2 3 6 0 0 0 11
Cohesion Phenomics 0 0 0 6 4 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 4 1 0 0 9
Genetics Department, University Hospital of Toulouse 5 3 1 0 0 0 9
Institute of Human Genetics, University Hospital Muenster 1 2 4 2 0 0 9
New York Genome Center 0 1 8 0 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 9 9
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 5 4 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 3 0 1 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 1 2 4 1 0 0 8
DASA 5 3 0 0 0 0 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 7 0 0 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 5 0 0 0 0 7
Molecular Genetics, Royal Melbourne Hospital 0 2 2 2 1 0 7
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 3 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 3 0 0 0 0 6
Clinical Genetics Laboratory, Region Ostergotland 1 3 1 0 0 0 5
Zhou Lab, Center of Laboratory Medicine, Fuwai Hospital 5 0 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 0 5
Suma Genomics 3 1 1 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 0 4 0 0 0 4
Centogene AG - the Rare Disease Company 1 0 3 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 1 1 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 2 1 0 0 0 4
Center of Excellence for Medical Genomics, Chulalongkorn University 1 2 1 0 0 0 4
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 2 2 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 3 1 0 0 0 4
Elahi Laboratory, University of Tehran 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 2 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 2 0 0 0 3
Department of Medical Genetics, Gazi University 3 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 2 0 0 0 3
Heart Medical Centre, First Affiliated Hospital of Gannan Medical University 3 0 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 1 2 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 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
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 2 0 2
MNM Diagnostics 1 0 0 1 0 0 2
Shen lab, Soochow University 1 1 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 2 0 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
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
Health in Code S.L. 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 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
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Medical Genetics Clinic, Mersin Women and Children Hospital 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
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 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
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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 1
Health Biotechnology Lab, Department of Biotechnology, Abdul Wali Khan University Mardan 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 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
Division of Clinical Genetics, Department of Laboratory Medicine, University of Debrecen 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
School of Medicine, Southern Illinois University 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Insititute of Human Genetics, University Giessen, Germany 0 1 0 0 0 0 1
Senckenberg Centre for Human Genetics, Bürgerhospital und Clementine Kinderhospital gGmbH 1 0 0 0 0 0 1
Liaoning Province Research Institute of Family Planning, China Medical University 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1

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