ClinVar Miner

Variants studied for Intellectual disability, X-linked, syndromic 33

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 total
11 25 47 6 0 85

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
TAF1 11 25 47 6 85

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Genome Medicine, Institute for Basic Research in Developmental Disabilities 6 14 10 6 36
Baylor Genetics 0 1 5 0 6
OMIM 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 5 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 4
Centogene AG - the Rare Disease Company 0 0 3 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 3
3billion 0 1 2 0 3
Mendelics 2 0 0 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 2 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 1 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 1
Bondeson Group, Uppsala University 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 1
Eurofins-Biomnis 0 1 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 1 0 1
Solve-RD Consortium 0 1 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 0 0 1

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