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
75 78 153 78 34 104 380

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 62 67 133 9 13 104 286
not provided 38 15 25 54 25 0 146
not specified 3 1 6 23 7 0 40
Inborn genetic diseases 0 2 0 0 0 0 2
Inflammatory bowel disease 5 0 0 1 0 0 0 1
Severe Myopia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 40 4 83 56 9 0 192
Research and Development, ARUP Laboratories 0 0 0 0 0 104 104
Counsyl 5 58 26 0 1 0 90
GeneDx 30 9 6 25 14 0 84
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 19 2 18 0 6 0 45
Illumina Clinical Services Laboratory,Illumina 4 1 25 4 7 0 41
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 9 3 5 2 12 0 31
OMIM 21 0 1 0 0 0 22
Integrated Genetics/Laboratory Corporation of America 13 1 0 0 6 0 20
Baylor Genetics 10 1 0 0 0 0 11
Fulgent Genetics,Fulgent Genetics 4 1 3 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 2 1 0 0 6
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 0 2 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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing 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
GenomeConnect, ClinGen 0 0 0 0 0 1 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: University of Minnesota 1 0 0 0 0 0 1

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