ClinVar Miner

Variants studied for Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

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 24 24 3 0 5 73

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
CTCF 22 23 23 3 5 71
GRIN2A 0 1 0 0 0 1
KIF11 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Institute of Human Genetics, University of Leipzig Medical Center 17 13 4 0 0 34
Baylor Genetics 1 0 7 0 0 8
Revvity Omics, Revvity 1 1 3 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 5 5
OMIM 3 0 0 0 0 3
Mendelics 2 0 0 1 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 2 0 0 3
New York Genome Center 1 0 2 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Suma Genomics 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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