ClinVar Miner

Variants studied for X-linked intellectual disability-cerebellar hypoplasia syndrome

Included ClinVar conditions (1):
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
16 14 30 5 0 2 67

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
OPHN1 16 14 30 5 2 67

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Revvity Omics, Revvity Omics 1 0 9 0 0 10
OMIM 6 0 0 0 0 6
Baylor Genetics 1 1 4 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 2 4 0 6
Genetic Services Laboratory, University of Chicago 1 0 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 2
Mendelics 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Human Neuroscience, La Sapienza University of Rome 0 1 1 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 2
Institute of Science, Banaras Hindu University 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 2 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 1

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