ClinVar Miner

Variants studied for Loeys-Dietz syndrome 2

Included ClinVar conditions (17):
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
1908 1175 2486 1791 256 13 6831

Gene and significance breakdown #

Total genes and gene combinations: 33
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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
TGFBR2 24 20 241 129 18 0 414
TMPO 0 0 251 119 21 0 391
FBN1, LOC126862124 33 17 29 29 4 0 96
FBN1, LOC113939944 28 17 38 19 3 0 92
FBN1, LOC130057019 7 3 15 9 4 0 31
LOC130008520, TMPO 0 0 12 16 1 0 29
FBN1, LOC130057020 0 0 7 1 0 0 8
LOC129936399, TGFBR2 0 0 4 0 1 0 5
COL5A2 0 0 4 0 0 0 4
FBN2 0 1 2 0 0 0 3
TGFBR1 1 1 1 0 0 0 3
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
LTBP2 1 0 1 0 0 0 2
MYH11 0 0 2 0 0 0 2
NOTCH1 0 0 1 1 0 0 2
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
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 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
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: 114
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1508 378 1336 1456 196 0 4874
All of Us Research Program, National Institutes of Health 9 15 924 506 43 0 1497
Center for Medical Genetics Ghent, University of Ghent 172 352 175 14 0 0 712
Illumina Laboratory Services, Illumina 2 1 191 97 65 0 352
Centre of Medical Genetics, University of Antwerp 170 112 16 0 0 0 298
Fulgent Genetics, Fulgent Genetics 14 9 240 24 0 0 287
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 66 103 2 0 0 0 171
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 38 20 7 15 0 85
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 29 34 11 3 7 0 84
Blueprint Genetics 9 35 13 1 0 0 58
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 16 13 21 5 3 0 57
OMIM 48 0 1 0 0 0 49
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 7 7 1 0 0 28
3billion 7 15 6 0 0 0 28
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 11 9 3 1 0 0 24
CSER _CC_NCGL, University of Washington 0 0 14 6 1 0 21
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 8 11 2 0 0 0 21
Institute of Human Genetics, University of Leipzig Medical Center 6 8 6 1 0 0 21
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 13 2 1 0 21
deCODE genetics, Amgen 8 12 0 0 0 0 20
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 9 5 5 0 0 0 19
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 15 0 0 0 0 19
Baylor Genetics 7 2 9 0 0 0 18
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 12 6 0 0 0 0 18
MGZ Medical Genetics Center 1 7 8 0 0 0 16
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 5 7 0 0 0 15
Institute of Human Genetics, Cologne University 4 7 3 0 0 0 14
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 9 2 0 0 0 0 11
Cohesion Phenomics 0 0 0 6 4 0 10
Institute of Human 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
Genetics and Molecular Pathology, SA Pathology 2 3 3 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
Neuberg Centre For Genomic Medicine, NCGM 2 3 3 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 4 2 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 2 0 1 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 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
New York Genome Center 0 1 4 0 0 0 5
Suma Genomics 3 1 1 0 0 0 5
Clinical Genetics Laboratory, Region Ostergotland 1 3 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 2 1 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 3
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
Molecular Genetics, Royal Melbourne Hospital 0 1 0 1 1 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
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
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 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
Center of Excellence for Medical Genomics, Chulalongkorn University 1 1 0 0 0 0 2
MNM Diagnostics 1 0 0 1 0 0 2
Shen lab, Soochow University 1 1 0 0 0 0 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 1 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 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
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
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 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
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 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
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
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized 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
Genome-Nilou Lab 0 0 0 0 1 0 1
Health Biotechnology Lab, Department of Biotechnology, Abdul Wali Khan University Mardan 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 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
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

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