ClinVar Miner

Variants studied for TUBB3-related tubulinopathy

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
9 3 5 0 0 12 20

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
TUBB3 9 3 5 12 20

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance not provided total
GeneReviews 1 0 0 10 11
OMIM 5 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 2 0 4
GenomeConnect - Brain Gene Registry 0 0 0 3 3
Illumina Laboratory Services, Illumina 1 1 0 0 2
Baylor Genetics 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
CHU Sainte-Justine Research Center, University of Montreal 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
3billion 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 1
DASA 0 1 0 0 1

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