ClinVar Miner

Variants in gene SPTAN1

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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
17 22 415 581 186 1 1047

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early infantile epileptic encephalopathy with suppression bursts 2 5 243 267 82 0 599
not specified 0 0 26 267 91 0 359
not provided 6 5 107 139 64 0 315
Seizures 1 0 15 49 20 0 85
Early infantile epileptic encephalopathy 5 7 8 52 5 2 0 74
Rolandic epilepsy 7 0 0 0 0 0 7
Inborn genetic diseases 0 0 6 0 0 0 6
Intellectual disability 0 0 3 1 0 0 4
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 1 2 0 0 3
See cases 1 1 0 0 0 0 2
Abnormality of brain morphology 0 1 0 0 0 0 1
Congenital cerebellar hypoplasia 0 1 0 0 0 0 1
Distal lower limb muscle weakness 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
Epileptic encephalopathy 1 0 0 0 0 0 1
Focal epilepsy 0 1 0 0 0 0 1
Generalized tonic-clonic seizures 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 0 1
Undetermined early-onset epileptic encephalopathy 0 0 0 0 0 1 1
Variant of unknown significance 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 5 243 328 88 0 666
GeneDx 5 4 52 269 130 0 460
Ambry Genetics 1 0 21 48 20 0 90
Genetic Services Laboratory, University of Chicago 2 1 31 23 18 0 75
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 37 13 4 0 55
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 25 9 0 0 35
Athena Diagnostics Inc 1 0 7 11 15 0 34
Institute of Human Genetics, University of Leipzig Medical Center 0 0 10 2 1 0 13
PreventionGenetics, PreventionGenetics 0 0 0 0 10 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 6 0 0 0 7
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 7 0 0 0 0 0 7
Fulgent Genetics,Fulgent Genetics 0 0 5 1 0 0 6
OMIM 4 0 1 0 0 0 5
Baylor Genetics 0 0 5 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 4 0 0 4
Illumina Clinical Services Laboratory,Illumina 0 0 1 2 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 3 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 2 0 0 0 0 2
Mendelics 0 0 1 0 1 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 0 2 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 1 1 0 0 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 1 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1

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