ClinVar Miner

Variants in gene GRIN1

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
24 20 67 117 35 10 243

Condition and significance breakdown #

Total conditions: 14
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 6 82 13 0 92
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 12 7 39 16 12 0 84
not provided 3 12 17 13 21 8 73
History of neurodevelopmental disorder 0 0 6 16 6 0 28
Inborn genetic diseases 5 1 2 0 0 0 8
Intellectual disability 1 0 0 2 0 0 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
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 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 WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE 1 0 0 0 0 0 1
Rolandic epilepsy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 3 10 5 85 31 0 134
Invitae 1 2 35 16 12 0 66
Ambry Genetics 5 1 8 16 6 0 36
Genetic Services Laboratory, University of Chicago 0 1 7 9 0 0 17
OMIM 12 0 0 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 9 0 0 0 9
Psychiatry Genetics Yale University 0 0 0 0 0 8 8
Athena Diagnostics Inc 0 0 1 1 5 0 7
Baylor Genetics 0 1 2 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 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
Diagnostic Laboratory,Strasbourg University Hospital 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 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.