ClinVar Miner

Variants studied for Loeys-Dietz syndrome 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
24 20 470 236 36 782

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
TMPO 0 0 252 119 21 392
TGFBR2 24 20 203 101 13 357
LOC130008520, TMPO 0 0 12 16 1 29
LOC129936399, TGFBR2 0 0 3 0 1 4

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 264 135 22 421
All of Us Research Program, National Institutes of Health 1 1 153 92 5 252
Illumina Laboratory Services, Illumina 0 0 40 8 11 59
OMIM 17 0 0 0 0 17
Baylor Genetics 1 1 3 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 1 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 1 4
Centre of Medical Genetics, University of Antwerp 0 2 2 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 4 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 1 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 2
3billion 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
deCODE genetics, Amgen 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
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 1

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