ClinVar Miner

Variants studied for Macrocephaly-autism syndrome

Coded as:
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Gene type:
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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
41 15 12 0 1 69

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
PTEN 41 13 12 1 67
KLLN, PTEN 0 1 0 0 1
LOC126807101, WDFY3 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 10 0 0 0 10
3billion 3 2 2 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 1 0 5
Baylor Genetics 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 0 0 2
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 2 0 0 0 2
Laboratory of Medical Genetics, University of Torino 1 1 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
MGZ Medical Genetics Center 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 1
Mendelics 0 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 1
Institute of Human Genetics, FAU Erlangen-Nuremberg 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 1 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 1
New York Genome Center 1 0 0 0 1
Genome-Nilou Lab 0 0 0 1 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 1
DASA 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 1
Eurofins-Biomnis 1 0 0 0 1
Genetica Medica Lab, Tor Vergata University of Rome 0 1 0 0 1

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