ClinVar Miner

Variants studied for CEBALID syndrome

Coded as:
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
20 12 8 0 0 4 39

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
MN1 14 7 8 4 28
MTOR 6 5 0 0 11

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 5 0 0 12
OMIM 7 0 0 0 7
SIB Swiss Institute of Bioinformatics 6 1 0 0 7
Baylor Genetics 2 0 2 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 2 0 4
GeneReviews 0 0 0 3 3
3billion 0 3 0 0 3
MGZ Medical Genetics Center 1 1 0 0 2
New York Genome Center 0 0 2 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 1
Laboratoire de Genetique Biologique, CHU de Poitiers 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 1 1
Eurofins-Biomnis 1 0 0 0 1

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