ClinVar Miner

Variants studied for intellectual disability, autosomal dominant 34

Included ClinVar conditions (1):
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 total
2 2 17 2 0 22

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
CERT1 1 2 13 2 17
CERT1, POLK 1 0 4 0 5

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Revvity Omics, Revvity 1 0 6 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 2
OMIM 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Mendelics 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 1
New York Genome Center 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 0 1 1

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