ClinVar Miner

Variants studied for Loeys-Dietz syndrome

Included ClinVar conditions (16):
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
159 143 1409 784 135 5 2545

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TGFB2 56 23 225 141 37 1 455
TGFBR2 26 34 247 127 15 2 428
TGFB3 39 22 199 151 14 1 420
TMPO 0 0 252 119 21 0 392
SMAD3 17 29 205 124 15 1 373
TGFBR1 10 25 225 96 14 0 357
TGFB2, TGFB2-OT1 0 0 16 4 12 0 32
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
LOC129936399, TGFBR2 0 0 4 0 1 0 5
LOC130002223, TGFBR1 0 0 4 0 0 0 4
COL3A1 0 1 1 0 0 0 2
FBN1 1 0 1 0 0 0 2
FBN2 0 0 2 0 0 0 2
LOC130056139, TGFB3 0 2 0 0 0 0 2
ABCA3 0 1 0 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
COL5A1, LOC101448202 0 0 1 0 0 0 1
COL5A2 0 0 1 0 0 0 1
EPRS1, ESRRG, GPATCH2, LYPLAL1, RRP15, SLC30A10, SPATA17, TGFB2 1 0 0 0 0 0 1
ESRRB, GPATCH2L, IFT43, TGFB3, TTLL5 0 0 1 0 0 0 1
ESRRG, GPATCH2, LYPLAL1, RRP15, SPATA17, TGFB2 1 0 0 0 0 0 1
GPATCH2, RRP15, SPATA17, TGFB2 1 0 0 0 0 0 1
MYH11 0 0 1 0 0 0 1
MYLK 0 0 1 0 0 0 1
RRP15, TGFB2 1 0 0 0 0 0 1
SMAD6 0 0 1 0 0 0 1
TWNK 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 80 34 607 414 46 0 1181
All of Us Research Program, National Institutes of Health 2 7 348 242 14 0 613
Illumina Laboratory Services, Illumina 0 0 351 123 73 0 539
Fulgent Genetics, Fulgent Genetics 3 2 115 15 3 0 138
OMIM 52 0 0 0 0 0 52
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 8 9 12 0 32
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 7 10 0 0 0 23
Blueprint Genetics 0 12 7 0 0 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 8 1 0 4 0 18
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 10 0 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 12 2 0 0 17
Baylor Genetics 2 5 8 0 0 0 15
MGZ Medical Genetics Center 1 6 5 0 0 0 12
Genetics Department, University Hospital of Toulouse 5 3 1 0 0 0 9
3billion 1 6 2 0 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 1 5 0 0 0 8
Institute of Human Genetics, Cologne University 0 4 4 0 0 0 8
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 2 3 3 0 0 0 8
Revvity Omics, Revvity 0 1 6 0 0 0 7
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 7 0 0 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 2 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 6 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 3 1 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 6 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 3 3 0 0 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 2 1 0 0 0 5
Centre of Medical Genetics, University of Antwerp 0 2 3 0 0 0 5
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 1 1 0 1 0 4
Mendelics 0 2 0 1 1 0 4
deCODE genetics, Amgen 1 3 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 1 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 3 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 2 1 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 2 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 2 0 2
New York Genome Center 0 0 2 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 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
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 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
School of Medicine, Southern Illinois University 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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