ClinVar Miner

Variants in gene SLC22A5

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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
187 188 469 452 49 4 1155

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Renal carnitine transport defect 183 182 438 433 30 4 1102
not provided 51 21 54 27 33 0 173
Decreased circulating carnitine concentration 10 1 72 9 1 0 93
not specified 3 1 20 14 13 0 49
Inborn genetic diseases 2 1 14 1 0 0 18
SLC22A5-related condition 0 2 4 11 1 0 18
Abnormality of the nervous system 0 1 0 0 0 0 1
Axial hypotonia 1 0 0 0 0 0 1
Congenital myasthenic syndrome 20 1 0 0 0 0 0 1
Dilated cardiomyopathy 1A 0 1 0 0 0 0 1
High myopia 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 164 53 294 408 17 0 936
Giacomini Lab, University of California, San Francisco 5 9 109 27 0 0 150
GeneDx 39 13 29 33 35 0 149
Natera, Inc. 29 3 100 10 5 0 147
Genome-Nilou Lab 35 30 45 14 19 0 143
Baylor Genetics 49 57 5 0 0 0 111
Counsyl 4 54 26 0 1 0 85
Illumina Laboratory Services, Illumina 4 2 60 4 9 0 79
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 33 15 14 3 12 0 77
Fulgent Genetics, Fulgent Genetics 16 12 29 1 2 0 60
Eurofins Ntd Llc (ga) 19 2 18 0 6 0 45
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 15 3 8 3 13 0 42
CeGaT Center for Human Genetics Tuebingen 12 3 8 8 4 0 35
Revvity Omics, Revvity 15 7 8 0 0 0 30
OMIM 21 0 0 0 0 0 21
Ambry Genetics 2 1 14 1 0 0 18
PreventionGenetics, part of Exact Sciences 0 2 4 11 1 0 18
Myriad Genetics, Inc. 2 9 2 0 0 0 13
Mayo Clinic Laboratories, Mayo Clinic 4 1 5 0 0 0 10
Pars Genome Lab 0 0 1 1 7 0 9
Mendelics 6 1 0 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 1 0 1 1 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 0 0 3 0 5
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 4 0 1 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 2 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 1 1 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 3 0 4
Clinical Genomics Program, Stanford Medicine 0 1 3 0 0 0 4
Centogene AG - the Rare Disease Company 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Phosphorus, Inc. 0 0 0 0 3 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 2 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 2 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Cytogenetics- Mohapatra Lab, Banaras Hindu University 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Heart Center, Academic Medical Center Amsterdam 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Institute of Human Genetics, Polish Academy of Sciences 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Ricardo Maselli Laboratory, University of California Davis 1 0 0 0 0 0 1

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