ClinVar Miner

Variants studied for CASK-related intellectual disability

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
77 61 43 18 5 2 194

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 benign not provided total
CASK 75 60 43 18 5 2 191
CASK, DDX3X, GPR34, GPR82, LOC113875025, LOC126863241, LOC130068160, LOC130068161, LOC130068162, LOC130068163, LOC130068164, LOC130068165, LOC130068166, LOC130068167, LOC130068168, LOC130068169, LOC130068170, LOC130068171, LOC130068172, LOC130068173, NYX 1 0 0 0 0 0 1
CASK, LOC130068172, LOC130068173 1 0 0 0 0 0 1
LDLR 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PreventionGenetics, part of Exact Sciences 0 2 3 15 4 0 24
Genetic Services Laboratory, University of Chicago 17 2 3 0 0 0 22
OMIM 19 0 0 0 0 0 19
3billion 6 8 2 0 0 0 16
Ozbek Human Genetics Laboratory, Izmir Biomedicine and Genome Center 2 9 2 0 0 0 13
Mendelics 6 3 0 1 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 6 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 1 4 2 0 1 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 1 7 0 0 0 8
Baylor Genetics 3 1 3 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 3 1 0 0 0 7
Dobyns Lab, Seattle Children's Research Institute 3 1 0 0 0 0 4
Laboratory for Cytogenetics and Genome Research, KU Leuven 4 0 0 0 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 1 3 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 2 1 0 0 0 3
Fulgent Genetics, Fulgent Genetics 1 0 1 1 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 0 0 0 3
MVZ Martinsried, Medicover Genetics 1 1 1 0 0 0 3
Variantyx, Inc. 2 1 0 0 0 0 3
Center of Excellence for Medical Genomics, Chulalongkorn University 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 2 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 0 1
Department of Pediatric Genetics, Istanbul University - Cerrahpasa 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 1 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1

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