ClinVar Miner

Variants studied for Syndromic X-linked intellectual disability Najm 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
51 31 16 2 0 95

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 total
CASK 50 30 16 2 93
CASK, LOC130068172, LOC130068173 1 0 0 0 1
LDLR 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Genetic Services Laboratory, University of Chicago 17 2 3 0 22
OMIM 10 0 0 0 10
Mendelics 5 3 0 1 9
3billion 2 5 1 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 1 0 6
Baylor Genetics 2 1 2 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 1 3 0 0 4
Dobyns Lab, Seattle Children's Research Institute 3 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 4
Laboratory for Cytogenetics and Genome Research, KU Leuven 4 0 0 0 4
Centogene AG - the Rare Disease Company 0 2 1 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 1 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 3
Laboratory of Human Genetics, Universidade de São Paulo 2 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 1
Suma Genomics 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 1

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