ClinVar Miner

Variants in gene SPTAN1

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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
61 68 1103 1380 292 3 2576

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early infantile epileptic encephalopathy with suppression bursts 32 19 807 1059 144 0 2061
not provided 13 11 247 266 132 1 631
Developmental and epileptic encephalopathy, 5 16 29 125 51 126 1 320
not specified 0 1 27 205 92 0 304
Inborn genetic diseases 1 0 77 144 35 0 257
SPTAN1-related condition 3 3 13 37 7 0 63
Childhood epilepsy with centrotemporal spikes 7 0 0 0 0 0 7
Neuronopathy, distal hereditary motor, autosomal dominant 11 4 1 0 0 0 0 5
See cases 1 1 3 0 0 0 5
Intellectual disability 0 0 3 1 0 0 4
Developmental delay with or without epilepsy 3 0 0 0 0 0 3
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 1 2 0 0 3
Autism spectrum disorder 0 0 0 2 0 0 2
Distal spinal muscular atrophy 1 0 1 0 0 0 2
Neurodevelopmental disorder 0 1 1 0 0 0 2
Seizure 0 1 0 1 0 0 2
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 2 1 0 0 0 0 2
Abnormal brain morphology 0 1 0 0 0 0 1
Bilateral tonic-clonic seizure 0 0 1 0 0 0 1
Congenital cerebellar hypoplasia 0 1 0 0 0 0 1
Developmental disorder 0 0 1 0 0 0 1
Distal lower limb muscle weakness 0 1 0 0 0 0 1
Epileptic encephalopathy 1 0 0 0 0 0 1
Focal epilepsy 0 1 0 0 0 0 1
Landau-Kleffner syndrome 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 11; Developmental delay with or without epilepsy 0 1 0 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 0 1
SPTAN1-related disorders 1 0 0 0 0 0 1
Seizure; Intellectual disability 0 0 1 0 0 0 1
Spastic ataxia 0 1 0 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: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 32 19 807 1072 144 0 2074
GeneDx 9 5 129 342 201 0 686
Ambry Genetics 1 0 77 144 35 0 257
Genome-Nilou Lab 0 4 67 31 126 0 228
CeGaT Center for Human Genetics Tuebingen 4 1 44 78 8 0 135
Genetic Services Laboratory, University of Chicago 2 2 30 24 19 0 77
PreventionGenetics, part of Exact Sciences 3 3 13 37 17 0 73
Eurofins Ntd Llc (ga) 1 0 37 13 4 0 55
Athena Diagnostics Inc 1 0 7 11 15 0 34
Revvity Omics, Revvity 1 1 29 1 0 0 32
Institute of Human Genetics, University of Leipzig Medical Center 3 14 10 3 1 0 31
Fulgent Genetics, Fulgent Genetics 0 0 6 11 4 0 21
OMIM 14 0 4 0 0 0 18
Baylor Genetics 0 1 8 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 4 3 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 2 0 0 8
Mendelics 2 0 4 0 1 0 7
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 3 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 4 2 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 3 1 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 5 0 0 6
New York Genome Center 1 0 4 0 0 0 5
Illumina Laboratory Services, Illumina 0 0 2 2 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 3 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 3 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 4 0 0 4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 2 1 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 3 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 3 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 2 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
MGZ Medical Genetics Center 1 0 0 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 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
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Molecular Medicine, University of Pavia 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1

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