ClinVar Miner

Variants in gene OPHN1

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
46 36 219 137 93 5 475

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 24 11 155 109 89 0 362
X-linked intellectual disability-cerebellar hypoplasia syndrome 16 19 36 6 2 4 81
Inborn genetic diseases 2 1 29 18 9 0 59
not specified 3 0 10 17 14 0 39
OPHN1-related disorder 0 2 7 9 2 1 21
See cases 1 0 3 1 1 0 6
Intellectual disability 0 1 0 1 0 0 2
Abnormality of the nervous system 0 1 0 0 0 0 1
Autism spectrum disorder 0 0 1 0 0 0 1
Congenital cerebellar hypoplasia 0 1 0 0 0 0 1
Congenital cerebellar hypoplasia; Seizure; Oligohydramnios; Nystagmus; Hypoplasia of the corpus callosum; Delayed gross motor development 0 1 0 0 0 0 1
Seizure 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7 2 66 65 55 0 195
GeneDx 12 3 64 38 44 0 161
Ambry Genetics 2 1 29 18 9 0 59
CeGaT Center for Human Genetics Tuebingen 2 5 6 17 0 0 30
Breakthrough Genomics, Breakthrough Genomics 0 0 1 5 17 0 23
Genetic Services Laboratory, University of Chicago 1 0 9 5 7 0 22
PreventionGenetics, part of Exact Sciences 0 2 7 9 4 0 22
Eurofins Ntd Llc (ga) 1 0 12 3 4 0 20
Revvity Omics, Revvity 1 0 9 0 0 0 10
Athena Diagnostics 0 0 4 1 4 0 9
Fulgent Genetics, Fulgent Genetics 0 1 4 4 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 3 2 1 0 7
OMIM 6 0 0 0 0 0 6
Baylor Genetics 1 1 4 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 5 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 5 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 3 1 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 3 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 3 0 0 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
ISCA site 1 0 0 2 0 0 0 2
ISCA site 8 1 0 0 0 1 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 1 0 0 0 2
Human Neuroscience, La Sapienza University of Rome 0 1 1 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
Institute of Science, Banaras Hindu University 2 0 0 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 1 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 0 1 0 0 0 1
3billion 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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