ClinVar Miner

Variants in gene CNKSR2

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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
37 17 148 32 13 233

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 20 3 87 19 11 133
Intellectual disability, X-linked, syndromic, Houge type 16 10 22 2 2 50
Inborn genetic diseases 1 0 38 4 1 44
CNKSR2-related disorder 0 1 2 6 1 10
not specified 0 0 4 4 2 10
Intellectual disability 1 1 3 0 0 5
See cases 1 0 1 0 0 2
Neurodevelopmental disorder 0 1 0 0 0 1
X-linked recessive seizure and neurodevelopmental deficit 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 11 1 64 1 0 77
Ambry Genetics 1 0 38 4 1 44
CeGaT Center for Human Genetics Tuebingen 3 1 9 15 0 28
Labcorp Genetics (formerly Invitae), Labcorp 4 0 3 2 10 19
PreventionGenetics, part of Exact Sciences 0 1 2 6 1 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 3 0 6
Eurofins Ntd Llc (ga) 0 0 4 0 2 6
Institute of Human Genetics, University of Leipzig Medical Center 5 0 1 0 0 6
Revvity Omics, Revvity 0 1 4 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 4
3billion 1 0 2 1 0 4
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 4 4
Baylor Genetics 0 0 3 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 3
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 2 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 1 0 2 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 1 0 0 3
New York Genome Center 0 1 2 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 3
OMIM 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 1 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 2
Bionano Laboratories 0 0 2 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
ISCA site 1 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1
Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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