ClinVar Miner

Variants studied for Loeys-Dietz syndrome 2

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
24 20 486 240 36 801

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 20 219 105 13 376
LOC130008520, TMPO 0 0 12 16 1 29
LOC129936399, TGFBR2 0 0 3 0 1 4

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 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
Fulgent Genetics, Fulgent Genetics 1 0 33 6 0 40
OMIM 17 0 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 4 1 0 6
Baylor Genetics 1 1 3 0 0 5
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 1 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 1 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
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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 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
Genome-Nilou Lab 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 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

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