ClinVar Miner

Variants studied for intellectual developmental disorder with autism and macrocephaly

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 not provided total
48 34 72 5 0 2 158

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 46 33 70 5 1 153
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: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Revvity Omics, Revvity 1 2 22 0 0 25
OMIM 13 0 0 0 0 13
Baylor Genetics 3 3 7 0 0 13
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
Fulgent Genetics, Fulgent Genetics 0 1 3 3 0 7
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
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 4
MVZ Medizinische Genetik Mainz 1 1 2 0 0 4
Institute of Human Genetics, University of Goettingen 0 3 0 0 0 3
MGZ Medical Genetics Center 2 0 1 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 3
New York Genome Center 0 0 3 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 2 0 0 3
Mendelics 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 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
3billion 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 1
Solve-RD Consortium 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

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