ClinVar Miner

Variants studied for congenital hydrocephalus

Included ClinVar conditions (10):
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 not provided total
45 44 76 17 24 3 205

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MPDZ 14 15 34 1 3 2 67
L1CAM 22 13 8 3 4 0 49
CCDC88C 5 1 16 10 8 1 40
WDR81 3 2 11 3 8 0 27
SMARCC1 0 5 0 0 0 0 5
PTCH1 0 2 0 0 0 0 2
TRIM71 0 2 0 0 0 0 2
​intergenic 0 1 0 0 0 0 1
ACADM 0 1 0 0 0 0 1
ATN1 0 0 1 0 0 0 1
CCDC88C, LOC130056326 0 0 0 0 1 0 1
DOCK6 0 0 1 0 0 0 1
DUSP1, ERGIC1, NEURL1B 0 0 1 0 0 0 1
FGF18, NPM1 0 0 1 0 0 0 1
FSD1L 1 0 0 0 0 0 1
IPO11 0 0 1 0 0 0 1
LOC100507346, PTCH1 0 1 0 0 0 0 1
LOC130059847, TUBB3 0 0 1 0 0 0 1
RANBP17 0 0 1 0 0 0 1
SGCD 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 2 2 24 0 0 0 28
Fulgent Genetics, Fulgent Genetics 0 1 9 15 0 0 25
OMIM 23 0 0 0 0 0 23
Genome-Nilou Lab 0 0 0 0 21 0 21
Yale Center for Mendelian Genomics, Yale University 0 12 4 0 0 0 16
Revvity Omics, Revvity 1 4 9 0 0 0 14
Mendelics 1 1 1 1 3 0 7
New York Genome Center 0 0 7 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 5 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 1 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 3
Genetics Department, Polish Mother's Memorial Hospital Research Institute 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 2 0 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, CHU RENNES 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genetic Metabolism Laboratory, West China Second University Hospital, Sichuan University 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 1

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