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
112 87 264 121 37 104 546

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Renal carnitine transport defect 103 79 242 94 23 104 504
not provided 39 14 30 18 19 0 115
not specified 3 1 7 23 13 0 42
Decreased plasma carnitine 0 0 8 0 0 0 8
Inborn genetic diseases 1 1 0 0 0 0 2
Severe Myopia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 85 16 164 99 10 0 374
Research and Development, ARUP Laboratories 0 0 0 0 0 104 104
Counsyl 4 54 26 0 1 0 85
GeneDx 30 9 6 25 14 0 84
Illumina Clinical Services Laboratory,Illumina 4 2 60 4 9 0 79
Natera, Inc. 19 2 36 1 4 0 62
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 19 2 18 0 6 0 45
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 14 3 7 2 12 0 38
Integrated Genetics/Laboratory Corporation of America 20 2 1 1 12 0 36
OMIM 22 0 0 0 0 0 22
CeGaT Praxis fuer Humangenetik Tuebingen 8 3 6 2 0 0 19
Baylor Genetics 10 1 0 0 0 0 11
Fulgent Genetics,Fulgent Genetics 4 1 3 0 0 0 8
Myriad Women's Health, Inc. 2 3 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare 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
Mendelics 0 1 1 0 1 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
Ambry Genetics 1 1 0 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 1 0 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 1 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 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
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
Nilou-Genome Lab 0 0 1 0 0 0 1

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