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 total
3 9 5 0 1 15

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
TUBB2A 3 9 5 1 15

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance benign total
Baylor Genetics 1 2 0 0 3
OMIM 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 2
Mendelics 0 1 0 1 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 1

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