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
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
not provided |
total |
TUBB
|
7
|
7
|
11
|
2
|
25
|
Submitter and significance breakdown #
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
|
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
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
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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