ClinVar Miner

Variants in gene SLC19A3

Minimum submission review status: Collection method:
Minimum conflict level:
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 total
36 13 185 78 65 341

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Biotin-responsive basal ganglia disease 29 5 163 57 41 279
not provided 14 8 28 14 29 91
not specified 0 0 2 21 13 28
Thiamine Metabolism Dysfunction Syndrome 0 0 3 0 4 7
Intellectual disability 0 0 0 1 0 1
See cases 0 0 1 0 0 1
Seizures 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 16 1 108 50 13 188
Illumina Clinical Services Laboratory,Illumina 1 0 61 14 37 113
GeneDx 7 6 4 14 33 64
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 13 1 3 18
CeGaT Praxis fuer Humangenetik Tuebingen 5 1 6 2 0 14
Athena Diagnostics Inc 0 0 4 2 7 13
Genetic Services Laboratory, University of Chicago 0 0 2 6 1 9
PreventionGenetics, PreventionGenetics 0 0 0 1 8 9
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 0 5 8
OMIM 7 0 0 0 0 7
Laboratory of Metabolic Disorders, Peking University First Hospital 5 0 0 0 0 5
Baylor Genetics 3 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 1 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 1 3
Mendelics 1 0 0 0 1 2
Lineagen, Inc 1 0 1 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 1 2
Applied Translational Genetics Group,University of Auckland 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Blueprint Genetics 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 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 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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