ClinVar Miner

Variants in gene SLC19A3

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
59 27 303 251 73 1 650

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Biotin-responsive basal ganglia disease 51 18 259 227 46 1 577
not provided 18 9 63 30 36 0 146
not specified 1 0 4 15 13 0 25
Inborn genetic diseases 3 0 12 1 0 0 16
SLC19A3-related condition 0 1 2 6 2 0 11
Thiamine Metabolism Dysfunction Syndrome 0 0 3 0 4 0 7
Intellectual disability 0 0 0 1 0 0 1
See cases 0 0 1 0 0 0 1
Seizure 0 0 1 0 0 0 1
Spastic paraplegia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 39 8 203 212 19 0 481
GeneDx 12 7 41 25 40 0 125
Illumina Laboratory Services, Illumina 1 0 61 14 37 0 113
CeGaT Center for Human Genetics Tuebingen 5 1 10 10 1 0 27
PreventionGenetics, part of Exact Sciences 0 1 2 7 10 0 20
Eurofins Ntd Llc (ga) 1 0 13 1 3 0 18
Ambry Genetics 3 0 12 1 0 0 16
Athena Diagnostics Inc 0 0 4 2 7 0 13
Mayo Clinic Laboratories, Mayo Clinic 1 0 5 0 5 0 11
Genetic Services Laboratory, University of Chicago 1 0 2 6 1 0 10
OMIM 7 0 0 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 4 0 7
Fulgent Genetics, Fulgent Genetics 1 2 1 2 0 0 6
Baylor Genetics 3 0 2 0 0 0 5
Revvity Omics, Revvity 2 0 2 1 0 0 5
Laboratory of Metabolic Disorders, Peking University First Hospital 5 0 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 1 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 1 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 2 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Mendelics 1 0 0 0 1 0 2
Bionano Laboratories 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 1 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 2
Applied Translational Genetics Group, University of Auckland 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Paris Brain Institute, Inserm - ICM 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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