ClinVar Miner

Variants studied for complex cortical dysplasia with other brain malformations 5

Included ClinVar conditions (1):
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
5 18 8 1 2 1 29

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TUBB2A 4 17 8 1 2 1 28
LOC129995635, TUBB2A 1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 2 2 0 0 0 0 4
OMIM 3 0 0 0 0 0 3
Mendelics 1 2 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 1 1 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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