ClinVar Miner

Variants studied for complex cortical dysplasia with other brain malformations 1

Included ClinVar conditions (4):
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
12 15 15 0 0 5 42

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
TUBB3 11 14 14 4 38
TUBB2B 0 0 1 1 2
​intergenic 1 0 0 0 1
LOC130059847, TUBB3 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Genetic Services Laboratory, University of Chicago 2 0 6 0 8
OMIM 5 0 0 0 5
Baylor Genetics 1 1 3 0 5
3billion 1 3 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 4 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 1

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