ClinVar Miner

Variants in gene DCX

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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
127 54 67 37 18 271

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 40 16 47 23 15 132
Ectopic tissue 71 19 0 0 0 90
Lissencephaly type 1 due to doublecortin gene mutation 23 15 10 1 0 47
Inborn genetic diseases 5 0 5 13 2 25
Subcortical laminar heterotopia, X-linked 16 0 0 0 0 16
not specified 0 0 4 4 6 12
Abnormal cortical gyration 9 1 0 0 0 10
DCX-related condition 0 0 1 4 1 6
Lissencephaly 0 3 0 0 0 3
Abnormal cerebral morphology 1 0 1 0 0 2
Neurodevelopmental disorder 1 0 1 0 0 2
See cases 1 0 1 0 0 2
Abnormality of the nervous system 1 0 0 0 0 1
Fucosidosis 0 1 0 0 0 1
Seizure 0 0 1 0 0 1
Subcortical band heterotopia 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 84 20 3 2 3 112
GeneDx 22 8 16 7 8 61
Invitae 20 2 18 9 10 59
Ambry Genetics 5 0 5 13 2 25
CeGaT Center for Human Genetics Tuebingen 2 4 6 6 0 18
OMIM 14 0 0 0 0 14
PreventionGenetics, part of Exact Sciences 0 0 1 6 2 9
Eurofins Ntd Llc (ga) 2 0 3 1 2 8
Institute of Human Genetics, University of Leipzig Medical Center 2 3 1 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 2 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 2 0 0 4
3billion 2 1 1 0 0 4
Revvity Omics, Revvity 1 0 2 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 1 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 1 0 2 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 2 0 0 3
Baylor Genetics 0 0 2 0 0 2
Athena Diagnostics Inc 0 0 1 0 1 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 1 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
ISCA site 1 1 0 0 0 0 1
ISCA site 4 0 0 1 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1

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