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
85 103 1500 1608 294 73 3252

Condition and significance breakdown #

Total conditions: 67
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early-infantile DEE 35 22 973 1251 145 0 2426
not provided 25 20 425 330 149 2 888
Inborn genetic diseases 7 1 199 159 35 0 401
not specified 0 1 60 228 111 0 362
Developmental and epileptic encephalopathy, 5 18 40 148 54 126 1 353
SPTAN1-related disorder 5 5 26 46 7 0 89
Developmental and epileptic encephalopathy 2 1 20 9 0 0 32
Developmental delay with or without epilepsy 4 3 9 0 0 0 16
Ovarian serous cystadenocarcinoma 0 0 0 0 0 16 16
Neuronopathy, distal hereditary motor, autosomal dominant 11 8 4 1 0 0 0 13
Developmental and epileptic encephalopathy, 5; Neuronopathy, distal hereditary motor, autosomal dominant 11; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia; Developmental delay with or without epilepsy 0 0 5 5 0 0 10
Intellectual disability 0 0 7 3 0 0 10
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 9 9
Malignant tumor of urinary bladder 0 0 0 0 0 8 8
Self-limited epilepsy with centrotemporal spikes 7 0 0 0 0 0 7
Uterine corpus endometrial carcinoma 0 0 0 0 0 7 7
Lung cancer 0 0 0 0 0 6 6
Thymoma 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 5 5
See cases 1 1 3 0 0 0 5
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 2 4 0 1 0 0 5
Acute myeloid leukemia 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Autism spectrum disorder 0 0 0 2 0 0 2
Cervical cancer 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Distal spinal muscular atrophy 1 0 1 0 0 0 2
Hereditary spastic paraplegia 2 0 0 0 0 0 2
Lymphedema 0 0 0 1 1 0 2
Neurodevelopmental disorder 0 1 1 0 0 0 2
Neuromuscular disease 0 1 1 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Seizure 0 1 0 1 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Abnormal brain morphology 0 1 0 0 0 0 1
Autosomal dominant SPTAN1-related disorders 0 1 0 0 0 0 1
Bilateral tonic-clonic seizure 0 0 1 0 0 0 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Congenital cerebellar hypoplasia 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 5; Developmental delay with or without epilepsy 0 0 1 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
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Familial prostate cancer 0 0 0 0 0 1 1
Focal epilepsy 0 1 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Landau-Kleffner syndrome 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Neurodevelopmental abnormality 1 0 0 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 11; Developmental delay with or without epilepsy 0 1 0 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 11; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 0 0 1 0 0 0 1
Other rare neuromuscular disorders 0 0 1 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 0 1
Slurred speech; Limb ataxia 0 0 1 0 0 0 1
Spastic ataxia 0 1 0 0 0 0 1
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia; Developmental delay with or without epilepsy 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Syndromic X-linked intellectual disability Raymond type 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
Werdnig-Hoffmann disease; Developmental and epileptic encephalopathy, 5 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 116
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 37 23 992 1271 145 0 2468
GeneDx 21 9 256 341 201 0 828
Ambry Genetics 7 1 199 159 35 0 401
Genome-Nilou Lab 0 4 67 31 126 0 228
CeGaT Center for Human Genetics Tuebingen 6 3 69 131 6 0 215
Breakthrough Genomics, Breakthrough Genomics 0 0 4 34 53 0 91
PreventionGenetics, part of Exact Sciences 4 3 20 46 17 0 90
Genetic Services Laboratory, University of Chicago 2 2 30 24 19 0 77
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 37 30 0 0 70
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 68 68
Mayo Clinic Laboratories, Mayo Clinic 0 0 20 18 27 0 65
Eurofins Ntd Llc (ga) 1 0 37 13 4 0 55
Athena Diagnostics 1 0 8 11 24 0 44
Revvity Omics, Revvity 1 2 37 1 0 0 41
Institute of Human Genetics, University of Leipzig Medical Center 7 15 12 3 1 0 38
Fulgent Genetics, Fulgent Genetics 0 0 8 11 4 0 23
3billion 2 3 9 5 0 0 19
OMIM 14 0 4 0 0 0 18
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 16 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 5 7 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 9 1 0 0 11
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 3 5 0 0 0 10
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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 9 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 4 1 0 0 9
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 4 3 1 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 2 0 0 8
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 7 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 6 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 0 0 0 7
Mendelics 2 0 4 0 1 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 5 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 4 0 0 0 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 5 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 6
Variantyx, Inc. 1 5 0 0 0 0 6
Institute of Human Genetics, University of Goettingen 0 4 1 0 0 0 5
MVZ Medizinische Genetik Mainz 0 3 2 0 0 0 5
New York Genome Center 1 0 4 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 3 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 1 1 2 1 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 4 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 3 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 3 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 2 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 2 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 2 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 1 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 0 2 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 1 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 2 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 1 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 1 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 1 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Clinical Genomics, G42 Labs 0 1 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
Dasa 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 1
Molecular Medicine, University of Pavia 0 1 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1

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