ClinVar Miner

Variants studied for Loeys-Dietz syndrome

Included ClinVar conditions (29):
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
2034 1295 3379 2314 354 18 8518

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 1805 1113 1874 1465 204 13 5730
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
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
FBN2 0 1 4 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
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
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
RRP15, TGFB2 1 0 0 0 0 0 1
SMAD6 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 127
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1583 411 1676 1735 220 0 5625
All of Us Research Program, National Institutes of Health 10 21 1119 656 52 0 1858
Illumina Laboratory Services, Illumina 2 1 476 187 126 0 781
Center for Medical Genetics Ghent, University of Ghent 172 352 175 14 0 0 712
Fulgent Genetics, Fulgent Genetics 16 11 322 33 3 0 385
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 34 35 24 17 1 0 111
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 45 21 7 19 0 101
OMIM 83 0 1 0 0 0 84
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 29 34 11 3 7 0 84
Blueprint Genetics 9 47 20 1 0 0 77
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 17 14 29 6 3 0 68
Mendelics 16 15 4 7 10 0 52
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 19 13 15 1 0 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
3billion 8 19 8 0 0 0 35
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 9 9 12 0 33
Baylor Genetics 8 6 14 0 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
MGZ Medical Genetics Center 2 13 11 0 0 0 26
Institute of Human Genetics, University of Leipzig Medical Center 6 10 9 1 0 0 26
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 13 9 3 1 0 0 26
CSER _CC_NCGL, University of Washington 0 0 16 6 1 0 23
deCODE genetics, Amgen 8 15 0 0 0 0 23
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 14 2 1 0 22
Institute of Human Genetics, Cologne University 4 10 7 0 0 0 21
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 17 0 0 0 0 21
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 12 6 0 0 0 0 18
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 6 7 0 0 0 17
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 3 5 0 0 0 10
Cohesion Phenomics 0 0 0 6 4 0 10
GenomeConnect, ClinGen 0 0 0 0 0 9 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 9 9
Neuberg Centre For Genomic Medicine, NCGM 2 3 4 0 0 0 9
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 5 4 0 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 5 2 0 0 0 9
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 7 1 0 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 1 2 4 1 0 0 8
DASA 5 3 0 0 0 0 8
Revvity Omics, Revvity 0 1 6 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 7 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 3 1 0 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 5 0 0 0 0 7
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 3 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 2 0 1 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
New York Genome Center 0 1 4 0 0 0 5
Suma Genomics 3 1 1 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 0 2 1 1 1 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 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
Elahi Laboratory, University of Tehran 2 0 1 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 0 0 3
Center of Excellence for Medical Genomics, Chulalongkorn University 1 2 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 2 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 1 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 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
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 2 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
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 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
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 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
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
Senckenberg Centre for Human Genetics, Bürgerhospital und Clementine Kinderhospital gGmbH 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 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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