ClinVar Miner

Variants in gene GRIN2B

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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
45 32 188 156 47 15 398

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 28 99 33 0 148
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2 1 52 40 25 0 119
not provided 26 18 54 2 9 14 118
Intellectual Disability, Dominant 0 0 49 19 0 0 68
History of neurodevelopmental disorder 0 1 8 37 14 0 60
Mental retardation, autosomal dominant 6 12 4 4 3 2 1 24
Epileptic encephalopathy, early infantile, 27 4 2 4 0 0 0 10
Inborn genetic diseases 4 0 5 0 0 0 9
See cases 0 2 0 0 0 0 2
Astigmatism; Motor delay; Delayed speech and language development; Joint hypermobility; Long fingers 1 0 0 0 0 0 1
Ataxia; intellectual deficiency 0 1 0 0 0 0 1
Autistic behavior; Seizures; Behavioral abnormality; Intellectual disability 0 1 0 0 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 1 0 0 0 1
Epilepsy; Ataxia; intellectual deficiency 0 1 0 0 0 0 1
Epileptic encephalopathy 0 0 1 0 0 0 1
Intellectual disability 0 0 0 1 0 0 1
Intellectual disability; Developmental delay 0 1 0 0 0 0 1
Seizures 0 0 1 0 0 0 1
Seizures; Behavioral abnormality; Self-injurious behavior; Scoliosis; Abnormal facial shape; Absent speech; Microcephaly; Craniosynostosis; Intrauterine growth retardation; Difficulty walking; Intellectual disability, severe 0 1 0 0 0 0 1
developmental delay with intractable seizures 0 0 1 0 0 0 1
intellectual deficiency 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 24 16 56 85 33 0 214
Invitae 1 0 49 40 25 0 115
Ambry Genetics 4 1 12 37 14 0 68
Illumina Clinical Services Laboratory,Illumina 0 0 49 19 0 0 68
Genetic Services Laboratory, University of Chicago 0 1 16 16 3 0 36
Athena Diagnostics Inc 0 0 1 0 13 0 14
Psychiatry Genetics Yale University 0 0 0 0 0 14 14
OMIM 12 0 0 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 5 2 0 0 9
Baylor Genetics 0 1 7 0 0 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 5 0 1 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 1 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 2 0 3
HudsonAlpha Institute for Biotechnology 1 2 0 0 0 0 3
Laboratory of Molecular Genetics,CHU RENNES 0 3 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 2 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 1 0 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 0 1

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