ClinVar Miner

Variants studied for congenital hydrocephalus

Included ClinVar conditions (12):
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
53 33 74 19 20 1 195

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PIK3R2 3 3 22 15 17 1 60
MPDZ 14 7 17 0 0 0 37
L1CAM 16 6 3 0 0 0 24
AKT3 5 3 10 2 0 0 19
CCDC88C 5 0 12 1 0 0 18
CCND2 7 1 1 0 0 0 8
WDR81 2 0 4 0 0 0 6
​intergenic 0 2 3 0 0 0 5
SMARCC1 0 5 0 0 0 0 5
L1CAM, LCA10 0 0 0 1 3 0 4
PTCH1 0 2 0 0 0 0 2
TRIM71 0 2 0 0 0 0 2
ACADM 0 1 0 0 0 0 1
AKT3, C1orf100, CEP170, LINC01347, LINC02774, LOC110120698, LOC111828504, LOC112577566, MIR4677, PLD5, SDCCAG8, ZBTB18 1 0 0 0 0 0 1
DOCK6 0 0 1 0 0 0 1
IPO11 0 0 1 0 0 0 1
LOC100507346, PTCH1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 1 26 17 14 0 60
OMIM 31 0 0 0 0 0 31
Baylor Genetics 8 1 20 0 0 0 29
Yale Center for Mendelian Genomics,Yale University 0 12 4 0 0 0 16
GeneReviews 11 0 0 0 0 0 11
Mendelics 1 1 1 1 4 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 6 0 0 0 8
Fulgent Genetics,Fulgent Genetics 1 0 5 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 5 0 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 0 4 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 0 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 1 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 1 1 0 0 0 0 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 - University of Regensburg 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 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
NeuroMeGen,Hospital Clinico Santiago de Compostela 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 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 1 0 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

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