ClinVar Miner

Variants studied for intellectual disability, X-linked 30

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
5 10 25 1 13 53

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PAK3 5 10 23 1 12 50
LOC130068561, PAK3 0 0 2 0 1 3

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 8 0 12 20
Revvity Omics, Revvity 0 0 7 0 0 7
OMIM 5 0 0 0 0 5
Baylor Genetics 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
TIDEX, University of British Columbia 0 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 1
Medical Genome Center, National Center of Neurology and Psychiatry 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.