ClinVar Miner

Variants in gene GRIN2A

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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
47 26 278 226 61 29 586

Condition and significance breakdown #

Total conditions: 14
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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 22 7 157 137 35 0 344
not provided 12 18 100 7 3 28 164
not specified 0 0 23 107 38 0 152
History of neurodevelopmental disorder 0 0 14 28 4 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
Epileptic encephalopathy 0 0 2 0 0 0 2
Dystonia, intellectual disability and language impairment 0 1 0 0 0 0 1
Focal epilepsy 0 0 1 0 0 0 1
Global developmental delay 0 0 1 0 0 0 1
Intellectual disability 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: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 11 16 57 88 36 0 208
Illumina Clinical Services Laboratory,Illumina 0 0 80 92 21 0 193
Invitae 9 2 68 52 15 0 146
Ambry Genetics 2 0 20 28 4 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
Psychiatry Genetics Yale University 0 0 0 0 0 27 27
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 19 4 0 0 23
OMIM 12 0 0 0 0 0 12
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 12 0 0 0 0 0 12
Athena Diagnostics Inc 0 0 4 1 3 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 2 3 1 0 8
PreventionGenetics 0 0 0 0 7 0 7
GeneReviews 5 0 0 0 0 0 5
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 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 0 0 3
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 3 0 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
Baylor Miraca Genetics Laboratories, 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
Mendelics 0 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 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 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1

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