ClinVar Miner

Variants studied for CEBALID syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
21 14 15 0 0 4 49

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 15 9 15 4 38
MTOR 6 5 0 0 11

Submitter and significance breakdown #

Total submitters: 23
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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
3billion 1 4 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 0 5
Baylor Genetics 2 0 2 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 4
GeneReviews 0 0 0 3 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 3
MGZ Medical Genetics Center 1 1 0 0 2
New York Genome Center 0 0 2 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 1
Eurofins-Biomnis 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 1 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 1
Laboratoire de Genetique Biologique, CHU de Poitiers 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 1
Unité De Génétique Médicale, Université Saint Joseph 0 0 1 0 1

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