ClinVar Miner

Variants in gene SLC6A1

Minimum submission review status: Collection method:
Minimum conflict level:
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
46 50 139 91 31 3 329

Condition and significance breakdown #

Total conditions: 12
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myoclonic-atonic epilepsy 27 23 116 65 29 1 257
not provided 17 26 21 26 9 0 95
History of neurodevelopmental disorder 1 0 3 18 8 0 30
Inborn genetic diseases 4 1 3 0 0 0 8
Intellectual disability 1 3 0 1 0 0 5
SLC6A1-Related Disorder 0 0 0 0 0 2 2
not specified 0 0 1 0 1 0 2
Global developmental delay 0 1 0 0 0 0 1
Global developmental delay; Seizures 0 1 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 1 0 0 0 0 1
Rolandic epilepsy 1 0 0 0 0 0 1
Seizures; Intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 22 12 107 76 29 0 246
Ambry Genetics 5 1 5 18 8 0 37
GeneDx 7 19 4 0 0 0 30
CeGaT Praxis fuer Humangenetik Tuebingen 6 4 14 5 0 0 29
Athena Diagnostics Inc 0 0 2 3 10 0 15
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 3 1 0 0 0 6
OMIM 5 0 0 0 0 0 5
Mendelics 1 3 1 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 0 0 0 0 5
Diagnostic Laboratory, Strasbourg University Hospital 1 3 0 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 2 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 1 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 2 0 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.