ClinVar Miner

Variants in gene KDM5B

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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 not provided total
42 48 217 62 16 4 366

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 19 22 92 46 15 2 185
Inborn genetic diseases 9 1 98 7 0 0 115
Intellectual disability, autosomal recessive 65 13 22 26 1 5 2 65
KDM5B-related disorder 0 6 5 15 5 0 31
Neurodevelopmental disorder 1 2 1 0 0 0 4
not specified 0 0 4 0 0 0 4
Autism spectrum disorder 1 0 0 1 0 0 2
See cases 1 0 1 0 0 0 2
Bladder exstrophy-epispadias-cloacal extrophy complex 0 0 1 0 0 0 1
Developmental disorder 0 0 1 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 0 1 0 0 0 1
Neurodevelopmental abnormality 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 9 1 98 7 0 0 115
GeneDx 8 15 70 0 3 0 96
CeGaT Center for Human Genetics Tuebingen 5 5 19 37 2 0 68
PreventionGenetics, part of Exact Sciences 0 6 5 15 5 0 31
Labcorp Genetics (formerly Invitae), Labcorp 4 0 1 11 9 0 25
Revvity Omics, Revvity 0 3 7 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 2 0 0 0 7
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 6 0 7
OMIM 5 0 0 0 0 0 5
Baylor Genetics 1 0 4 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 1 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 1 1 0 0 3
New York Genome Center 0 1 2 0 0 0 3
3billion 0 2 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 0 0 0 2
Mendelics 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine 0 0 1 0 0 0 1

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