ClinVar Miner

Variants in gene GRIN1

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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
63 65 335 547 95 15 1001

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Intellectual disability, autosomal dominant 8 46 45 222 454 69 0 822
not provided 14 16 96 86 34 13 250
not specified 0 0 13 64 14 0 83
Inborn genetic diseases 6 3 26 35 7 0 77
GRIN1-related condition 1 2 6 5 0 0 14
Intellectual disability 1 4 3 3 0 0 11
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 0 1 3 0 4 0 8
Developmental and epileptic encephalopathy 101 3 0 1 0 0 0 4
Intellectual disability, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; Developmental and epileptic encephalopathy 101 1 0 2 1 0 0 4
See cases 0 1 3 0 0 0 4
Intellectual disability, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 0 2 0 0 0 1 3
GRIN1-Related Disorder 0 0 0 0 0 2 2
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITH OR WITHOUT SEIZURES, AUTOSOMAL RECESSIVE 2 0 0 0 0 0 2
Autism 0 0 1 0 0 0 1
Autism spectrum disorder 0 0 0 1 0 0 1
Childhood epilepsy with centrotemporal spikes 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 1 0 1 0 0 0 0 1
Global developmental delay; Autistic behavior; Expressive language delay; Febrile seizure (within the age range of 3 months to 6 years); Macrocephaly 0 1 0 0 0 0 1
Hemimegalencephaly 0 0 1 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND WITH OR WITHOUT SEIZURES, AUTOSOMAL DOMINANT 1 0 0 0 0 0 1
Neurodevelopmental delay 0 1 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1
Seizure 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 15 207 454 68 0 769
GeneDx 14 10 61 121 41 0 247
Ambry Genetics 6 3 26 35 7 0 77
CeGaT Center for Human Genetics Tuebingen 3 1 18 21 0 0 43
Genetic Services Laboratory, University of Chicago 0 1 9 10 1 0 21
PreventionGenetics, part of Exact Sciences 1 2 6 5 0 0 14
OMIM 13 0 0 0 0 0 13
Baylor Genetics 1 4 7 0 0 0 12
Athena Diagnostics Inc 0 0 2 1 8 0 11
Revvity Omics, Revvity 0 0 8 0 0 0 8
Psychiatry Genetics Yale University 0 0 0 0 0 8 8
Diagnostic Laboratory, Strasbourg University Hospital 1 4 3 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 4 2 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 3 3 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 2 0 3 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 1 4 0 0 0 5
Institute of experimental medicine CAS – Neurochemistry department., Institute of Experimental Medicine, Czech Academy of Science 0 0 0 0 0 5 5
Mendelics 2 0 1 1 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 2 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 2 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 1 0 0 3
3billion 1 2 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 2 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Eurofins Ntd Llc (ga) 0 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 1 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 1 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 1 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 1 0 1 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Fondazione Telethon, Telethon Institute of Genetics and Medicine 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1

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