ClinVar Miner

Variants in gene SLC1A3

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 total
3 0 177 86 74 303

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic uncertain significance likely benign benign total
not provided 0 110 73 44 212
Episodic ataxia type 6 3 50 7 45 102
not specified 0 10 7 18 32
Inborn genetic diseases 0 27 2 0 29
Hereditary episodic ataxia 0 4 3 1 8
SLC1A3-related disorder 0 2 4 1 7
Spastic ataxia 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 57 54 21 132
Illumina Laboratory Services, Illumina 0 35 6 45 86
Athena Diagnostics 0 32 6 22 60
CeGaT Center for Human Genetics Tuebingen 0 18 19 3 40
GeneDx 0 22 0 15 37
Ambry Genetics 0 27 2 0 29
Breakthrough Genomics, Breakthrough Genomics 0 1 3 18 22
Genome-Nilou Lab 0 5 2 2 9
PreventionGenetics, part of Exact Sciences 0 2 4 1 7
Revvity Omics, Revvity 0 5 0 0 5
Fulgent Genetics, Fulgent Genetics 0 1 4 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 4 0 4
Eurofins Ntd Llc (ga) 0 2 1 1 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 0 4
OMIM 3 0 0 0 3
New York Genome Center 0 3 0 0 3
Baylor Genetics 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 2
Mendelics 0 1 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 1
Bionano Laboratories 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 1

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