ClinVar Miner

Variants in gene SLC6A1

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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
96 92 313 358 118 18 891

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myoclonic-atonic epilepsy 54 19 183 287 78 2 619
not provided 29 34 79 55 58 0 238
Myoclonic-astatic epilepsy 28 35 41 20 0 14 128
Inborn genetic diseases 8 2 33 49 10 0 102
SLC6A1-related condition 2 3 5 0 0 0 10
not specified 0 0 6 2 1 0 9
Intellectual disability 2 3 0 1 0 0 6
Neurodevelopmental delay 2 1 0 0 0 0 3
SLC6A1-Related Disorder 0 0 0 0 0 3 3
Neurodevelopmental disorder 1 0 1 0 0 0 2
SLC6A1-related neurodevelopmental disorder 0 0 1 0 0 1 2
Autism spectrum disorder; Myoclonic-astatic epilepsy 0 0 0 0 0 1 1
Autosomal dominant epilepsy 0 1 0 0 0 0 1
Childhood epilepsy with centrotemporal spikes 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
See cases 0 1 0 0 0 0 1
Seizure; Intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 58 17 192 305 78 0 650
GeneDx 20 24 46 34 54 0 178
Ambry Genetics 8 2 33 49 10 0 102
CeGaT Center for Human Genetics Tuebingen 6 6 27 16 6 0 61
Athena Diagnostics Inc 0 0 3 3 10 0 16
GenomeConnect - Brain Gene Registry 0 0 0 0 0 16 16
Institute of Human Genetics, University of Leipzig Medical Center 2 7 6 0 0 0 15
Revvity Omics, Revvity Omics 2 1 9 0 0 0 12
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 6 1 1 0 0 11
Preventiongenetics, part of Exact Sciences 2 3 5 0 0 0 10
Mendelics 2 5 3 0 0 0 10
New York Genome Center 1 1 6 0 0 0 8
Fulgent Genetics, Fulgent Genetics 1 0 3 3 0 0 7
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 2 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 2 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 0 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
3billion 1 2 1 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
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
Genomic Medicine Lab, University of California San Francisco 0 2 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
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
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
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
Molecular Genetics laboratory, Necker Hospital 1 0 0 0 0 0 1
Department of Laboratory Medicine, 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 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
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

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