ClinVar Miner

Variants in gene SLC6A1

Minimum submission review status: Collection method:
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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
114 108 371 398 120 19 1010

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Epilepsy with myoclonic atonic seizures 88 65 250 340 81 17 799
not provided 32 38 109 68 58 0 289
Inborn genetic diseases 10 4 45 51 10 0 120
SLC6A1-related disorder 2 3 7 18 6 3 39
not specified 0 0 10 5 5 0 20
Intellectual disability 2 3 0 1 0 0 6
Neurodevelopmental delay 2 1 0 0 0 0 3
Neurodevelopmental disorder 1 0 1 0 0 0 2
SLC6A1-related neurodevelopmental disorder 0 0 1 0 0 1 2
See cases 0 2 0 0 0 0 2
Seizure 2 0 0 0 0 0 2
Autism spectrum disorder; Epilepsy with myoclonic atonic seizures 0 0 0 0 0 1 1
Autosomal dominant epilepsy 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy 94 1 0 0 0 0 0 1
Global developmental delay 0 1 0 0 0 0 1
Global developmental delay; Seizure 0 1 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 1 0 0 0 0 1
SLC6A1-related neurodevelopmental condition 0 1 0 0 0 0 1
Seizure; Intellectual disability 0 1 0 0 0 0 1
Self-limited epilepsy with centrotemporal spikes 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 69 19 213 337 81 0 719
GeneDx 24 28 73 34 54 0 213
Ambry Genetics 10 4 45 51 10 0 120
CeGaT Center for Human Genetics Tuebingen 6 6 31 32 4 0 79
PreventionGenetics, part of Exact Sciences 2 3 7 18 6 0 36
Breakthrough Genomics, Breakthrough Genomics 0 0 0 9 24 0 33
Institute of Human Genetics, University of Leipzig Medical Center 6 6 8 0 0 0 20
Athena Diagnostics 1 0 2 4 10 0 17
GenomeConnect - Brain Gene Registry 0 0 0 0 0 17 17
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 6 1 1 0 0 13
Revvity Omics, Revvity 2 1 9 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 8 4 0 0 12
Mendelics 2 5 3 0 0 0 10
Fulgent Genetics, Fulgent Genetics 2 0 3 3 0 0 8
New York Genome Center 1 1 6 0 0 0 8
3billion 2 4 1 1 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 3 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 1 0 0 5 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 0 0 0 0 6
OMIM 5 0 0 0 0 0 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 2 1 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 1 0 1 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 1 0 0 4
Diagnostic Laboratory, Strasbourg University Hospital 1 3 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
MGZ Medical Genetics Center 0 2 1 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Illumina Laboratory Services, Illumina 0 1 2 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 3 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 2 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 0 1 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Rare Disease Center, Seoul National University Hospital 0 1 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1

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