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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Gene type:
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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
34 5 4 0 0 43

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CASK 34 5 4 43

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance total
Genetic Services Laboratory, University of Chicago 17 2 4 23
OMIM 5 0 0 5
Dobyns Lab,Seattle Children's Research Institute 3 1 0 4
Laboratory for Cytogenetics and Genome Research,KU Leuven 4 0 0 4
Baylor Genetics 1 0 0 1
Institute of Human Genetics,University of Goettingen 0 1 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 0 1
Mendelics 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1

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