ClinVar Miner

Variants studied for complex cortical dysplasia with other brain malformations 6

Included ClinVar conditions (2):
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
7 7 11 0 0 2 25

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
TUBB 7 7 11 2 25

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance not provided total
OMIM 3 0 0 0 3
Baylor Genetics 1 0 2 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 3
MGZ Medical Genetics Center 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 2
GenomeConnect, ClinGen 0 0 0 2 2
3billion 0 0 2 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 1
Mendelics 0 0 1 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 1

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