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
175 162 1584 878 137 5 2839

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TGFB2 60 23 249 170 38 1 513
TGFBR2 27 41 282 140 16 2 481
TGFB3 46 25 221 169 14 1 468
TMPO 0 0 292 129 21 0 442
SMAD3 19 35 228 134 15 1 412
TGFBR1 13 28 253 109 14 0 400
TGFB2, TGFB2-OT1 0 0 16 4 12 0 32
LOC130008520, TMPO 0 0 13 16 1 0 30
LOC130057352, SMAD3 1 3 10 7 4 0 23
SMAD2 7 4 2 0 1 0 14
LOC129936399, TGFBR2 0 0 4 0 1 0 5
LOC130002223, TGFBR1 0 0 4 0 0 0 4
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
COL3A1 0 0 1 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

Submitter and significance breakdown #

Total submitters: 86
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 91 36 696 471 47 0 1341
All of Us Research Program, National Institutes of Health 4 9 432 279 15 0 739
Illumina Laboratory Services, Illumina 0 0 351 123 73 0 539
Fulgent Genetics, Fulgent Genetics 4 3 118 15 3 0 143
OMIM 52 0 0 0 0 0 52
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 8 10 13 0 34
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 10 12 2 0 0 31
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 9 1 0 4 0 20
Blueprint Genetics 0 12 7 0 0 0 19
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
Institute of Human Genetics, University of Leipzig Medical Center 2 6 4 0 0 0 12
3billion 2 6 3 0 0 0 11
Institute of Human Genetics, Cologne University 0 5 4 0 0 0 9
Genetics Department, University Hospital of Toulouse 5 3 1 0 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 1 5 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 2 2 3 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 7 0 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 2 4 1 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 2 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 4 0 1 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
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 0 0 0 0 4
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 0 0 0 0 4
deCODE genetics, Amgen 1 3 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 2 1 1 0 0 4
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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 2 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
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
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 2 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 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
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
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
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
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 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
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1

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