ClinVar Miner

Variants studied for Mental retardation and microcephaly with pontine and cerebellar hypoplasia

Coded as:
Minimum submission review status: Collection method:
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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 total
38 11 4 1 1 53

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CASK 38 11 4 1 1 53

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 17 2 3 0 0 22
Mendelics 3 3 1 1 1 9
OMIM 5 0 0 0 0 5
Dobyns Lab,Seattle Children's Research Institute 3 1 0 0 0 4
Laboratory for Cytogenetics and Genome Research,KU Leuven 4 0 0 0 0 4
Broad Institute Rare Disease Group,Broad Institute 1 3 0 0 0 4
Baylor Genetics 1 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1

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