ClinVar Miner

Variants studied for Intellectual disability, autosomal recessive 13

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 not provided total
22 11 59 3 11 2 105

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TRAPPC9 21 11 59 3 11 2 104
C8orf17, TRAPPC9 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 1 1 20 0 0 0 22
Fulgent Genetics, Fulgent Genetics 1 0 11 1 1 0 14
Illumina Laboratory Services, Illumina 0 0 8 2 3 0 13
Revvity Omics, Revvity 1 0 9 0 0 0 10
Genome-Nilou Lab 0 0 0 0 7 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 4 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 2 0 0 0 5
OMIM 4 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1 0 2
Dr.Nikuei Genetic Center 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1

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