ClinVar Miner

Variants studied for intellectual disability, autosomal dominant 58

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
11 6 9 0 2 27

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
SET 10 6 8 2 25
LOC130002719, SET 0 0 1 0 1
SETSIP 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 5 0 0 0 5
Baylor Genetics 1 0 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 2
Revvity Omics, Revvity 1 0 1 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 2
Genome-Nilou Lab 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 1
New York Genome Center 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1
Solve-RD Consortium 0 1 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 1

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