ClinVar Miner

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

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
36 19 27 0 0 79

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CNOT3 33 16 27 73
CNOT3, LENG1 0 3 0 3
CNOT3, LENG1, MBOAT7, PRPF31, TMC4 1 0 0 1
CNOT3, LENG1, TMC4 1 0 0 1
LOC129935026, TBR1 1 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance total
Cytogenetique et Genetique Moleculaire, CHU Besancon 16 10 0 26
Baylor Genetics 0 1 6 7
Institute of Human Genetics, University of Leipzig Medical Center 3 1 2 6
OMIM 5 0 0 5
Revvity Omics, Revvity 0 0 5 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 3
3billion, Medical Genetics 0 1 2 3
MGZ Medical Genetics Center 0 1 1 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 1
Wangler Lab, Baylor College of Medicine 0 1 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 1

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