ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 51

Coded as:
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
16 9 21 1 1 46

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
KMT5B 16 9 21 1 1 46

Submitter and significance breakdown #

Total submitters: 30
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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
SIB Swiss Institute of Bioinformatics 0 1 3 0 0 4
Baylor Genetics 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 1 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
HSP Biomedical Diagnostics Department, Hospital San Pedro 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
Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb 0 1 0 0 0 1

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