ClinVar Miner

Variants in gene GRIN1

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
29 32 117 189 51 11 382

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 17 16 82 85 25 0 218
not provided 5 13 20 40 26 8 110
not specified 0 0 6 82 13 0 92
History of neurodevelopmental disorder 0 0 6 16 6 0 28
Inborn genetic diseases 5 3 3 0 0 0 11
Intellectual disability 1 4 2 3 0 0 10
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 1 1 3 0 0 0 5
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; 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 WITHOUT SEIZURES, AUTOSOMAL RECESSIVE 2 0 0 0 0 0 2
Global developmental delay; Autistic behavior; Expressive language delay; Febrile seizures; Macrocephalus 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 1 0 0 0 0 0 1
Rolandic epilepsy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 3 3 71 96 27 0 200
GeneDx 3 10 5 85 31 0 134
Ambry Genetics 5 3 9 16 6 0 39
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 11 6 0 0 19
Genetic Services Laboratory, University of Chicago 0 1 7 9 0 0 17
OMIM 12 0 0 0 0 0 12
Athena Diagnostics Inc 0 0 1 1 8 0 10
Baylor Genetics 0 2 7 0 0 0 9
Psychiatry Genetics Yale University 0 0 0 0 0 8 8
Diagnostic Laboratory, Strasbourg University Hospital 1 4 2 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 3 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 3 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 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
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 1 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Mendelics 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
CHLA 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1

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