ClinVar Miner

Variants in gene GRIN2A

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
56 37 320 290 80 29 714

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Epilepsy, focal, with speech disorder and with or without mental retardation 28 14 191 116 22 0 365
not provided 14 21 113 116 36 28 301
not specified 0 0 23 107 38 0 152
History of neurodevelopmental disorder 0 0 13 26 7 0 46
Rolandic epilepsy 12 0 1 0 0 0 13
Inborn genetic diseases 2 0 6 1 0 0 9
See cases 4 0 0 0 0 0 4
Intellectual disability 1 1 1 0 0 0 3
Epileptic encephalopathy 0 0 2 0 0 0 2
Dystonia, intellectual disability and language impairment 0 1 0 0 0 0 1
Familial temporal lobe epilepsy 1 0 0 1 0 0 0 1
Focal epilepsy 0 0 1 0 0 0 1
Global developmental delay 0 0 1 0 0 0 1
Preeclampsia 0 0 0 0 0 1 1
Pyridoxine-dependent epilepsy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 3 98 115 19 0 247
GeneDx 13 16 57 105 50 0 241
Illumina Clinical Services Laboratory,Illumina 0 0 80 92 21 0 193
Ambry Genetics 2 0 19 27 7 0 54
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 1 26 5 4 0 40
Genetic Services Laboratory, University of Chicago 0 0 18 16 3 0 37
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 29 6 0 0 37
Psychiatry Genetics Yale University 0 0 0 0 0 27 27
Mendelics 0 3 3 7 1 0 14
Athena Diagnostics Inc 0 0 6 1 6 0 13
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 3 5 0 0 0 13
OMIM 12 0 0 0 0 0 12
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 12 0 0 0 0 0 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 2 3 1 0 8
PreventionGenetics,PreventionGenetics 0 0 0 0 7 0 7
GeneReviews 5 0 0 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 3 0 0 0 4
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 4 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 2 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Ambulatório de Genética Médica,Hospital Escola da Universidade Federal de Pelotas 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1

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