ClinVar Miner

Variants studied for Intellectual developmental disorder, autosomal dominant 65

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
6 13 23 0 0 42

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
KDM4B 4 13 20 37
KDM4B, LOC130063244 2 0 2 4
OCRL 0 0 1 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 5 0 0 5
Revvity Omics, Revvity 0 0 4 4
Institute of Human Genetics, University of Leipzig Medical Center 0 4 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 1 2
Baylor Genetics 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 1
Illumina Laboratory Services, Illumina 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 1
New York Genome Center 0 1 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 1

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