ClinVar Miner

Variants studied for intellectual disability, autosomal dominant 51

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
18 12 23 1 1 52

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KMT5B 18 12 23 1 1 52

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
New York Genome Center 1 0 5 0 0 6
OMIM 5 0 0 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 4
SIB Swiss Institute of Bioinformatics 0 1 3 0 0 4
Baylor Genetics 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1
Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb 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.