ClinVar Miner

Variants studied for Loeys-Dietz syndrome 1

Included ClinVar conditions (3):
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 total
12 26 145 36 10 222

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TGFBR1 11 24 139 36 10 213
LOC130002223, TGFBR1 0 0 4 0 0 4
TGFBR2 1 1 2 0 0 4
SMAD2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 108 35 9 152
Fulgent Genetics, Fulgent Genetics 2 1 18 1 0 22
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 6 0 0 10
OMIM 8 0 0 0 0 8
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 2 3 0 0 5
Baylor Genetics 0 3 1 0 0 4
Revvity Omics, Revvity 0 1 3 0 0 4
MGZ Medical Genetics Center 0 3 1 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 2 1 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 3
Institute of Human Genetics, Cologne University 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
3billion, Medical Genetics 0 1 1 0 0 2
Mendelics 0 0 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 1

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