ClinVar Miner

Variants studied for Intellectual developmental disorder with autism and macrocephaly

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
52 40 88 5 0 2 183

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
CHD8 50 39 86 5 1 178
CHD8, LOC126861888 0 1 2 0 1 3
CHD8, METTL3, OR10G3, RAB2B, SALL2, SUPT16H, TOX4 1 0 0 0 0 1
CHD8, SNORD8, SNORD9 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Revvity Omics, Revvity 1 2 22 0 0 25
Baylor Genetics 3 3 7 0 0 13
OMIM 13 0 0 0 0 13
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 7 0 0 10
Fulgent Genetics, Fulgent Genetics 0 1 4 3 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 3 0 0 8
Centogene AG - the Rare Disease Company 1 0 6 0 0 7
3billion 1 3 2 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 0 4 0 0 6
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 3 1 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 0 0 5
MVZ Medizinische Genetik Mainz 1 1 3 0 0 5
New York Genome Center 0 0 5 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 2 0 0 3
Institute of Human Genetics, University of Goettingen 0 3 0 0 0 3
MGZ Medical Genetics Center 2 0 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 2
Mendelics 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 1

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