Variants studied for TUBB3-related tubulinopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
10	5	6	0	0	12	24

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	10	5	6	12	24

Submitter and significance breakdown #

Total submitters: 17

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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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	0	2
Illumina Laboratory Services, Illumina	1	1	0	0	2
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	1	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
Fulgent Genetics, Fulgent Genetics	0	0	1	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	1	0	0	1
3billion, Medical Genetics	1	0	0	0	1
DASA	0	1	0	0	1

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