ClinVar Miner

Variants studied for intellectual disability, X-linked syndromic, Turner type

Included ClinVar conditions (2):
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
15 31 112 10 4 2 168

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 benign not provided total
HUWE1 15 31 106 10 4 2 162
HUWE1, LOC126863263 0 0 5 0 0 0 5
HUWE1, LOC126863262 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity 0 1 24 0 0 0 25
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 3 14 0 0 1 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 4 12 0 0 0 16
OMIM 11 0 0 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 1 1 7 1 0 0 10
Fulgent Genetics, Fulgent Genetics 1 0 1 6 0 0 8
New York Genome Center 0 0 7 1 0 0 8
Baylor Genetics 0 1 6 0 0 0 7
3billion 1 1 4 1 0 0 7
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 6 0 0 0 6
Illumina Laboratory Services, Illumina 0 0 5 0 0 0 5
Centogene AG - the Rare Disease Company 1 0 2 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 2 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Molecular Genetics Lab, CHRU Brest 1 0 2 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Mendelics 1 0 0 1 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 1 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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