Variants studied for X-linked hydrocephalus syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	total
26	11	9	1	4	50

Gene and significance breakdown #

Total genes and gene combinations: 3

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
L1CAM	26	11	7	1	4	48
ATN1	0	0	1	0	0	1
LOC130059847, TUBB3	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 26

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OMIM	12	0	0	0	0	12
Mendelics	1	1	0	1	3	6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	5	0	1	0	0	6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	2	0	0	3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	0	3	0	0	3
Genetics Department, Polish Mother's Memorial Hospital Research Institute	1	2	0	0	0	3
Genetics Institute, Tel Aviv Sourasky Medical Center	1	1	0	0	0	2
Baylor Genetics	1	0	0	0	0	1
Hehr Laboratory, Center for Human Genetics Regensburg	0	0	1	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	0	0	0	0	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	1	0	0	0	0	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	1
MVZ Praenatalmedizin und Genetik Nuernberg	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	0	1	0	0	1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1
Genetic Metabolism Laboratory, West China Second University Hospital, Sichuan University	1	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	1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	0	1	0	0	0	1
Department Of Medical Genetics, Apollo Hospitals	0	1	0	0	0	1
Deyang Key Laboratory of Birth Defects Prevention and Control, Deyang People's Hospital	1	0	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.