ClinVar Miner

Variants studied for Intellectual developmental disorder with speech delay, autism, and dysmorphic facies

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 8 18 0 0 42

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CNOT3 14 7 18 39
CNOT3, LENG1 0 1 0 1
CNOT3, LENG1, TMC4 1 0 0 1
LOC129935026, TBR1 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance total
Baylor Genetics 0 1 5 6
OMIM 5 0 0 5
Revvity Omics, Revvity 0 0 5 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 3
3billion 0 1 2 3
MGZ Medical Genetics Center 0 1 1 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 2
New York Genome Center 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 1
Mendelics 1 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 1
Illumina Laboratory Services, Illumina 1 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 1
Wangler Lab, Baylor College of Medicine 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 1 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 1

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