ClinVar Miner

Variants in gene SLC22A5

See also:
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
69 69 123 41 19 104 303

Condition and significance breakdown #

Total conditions: 6
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Renal carnitine transport defect 53 60 103 25 16 104 269
not provided 37 13 23 1 7 0 75
not specified 4 1 5 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: 27
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 30 3 59 21 9 0 122
ARUP Institute,ARUP Laboratories 0 0 0 0 0 104 104
Counsyl 4 53 21 0 1 0 79
GeneDx 30 9 6 23 3 0 71
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
OMIM 21 0 1 0 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 7 2 2 1 8 0 20
Integrated Genetics/Laboratory Corporation of America 13 1 0 0 6 0 20
Fulgent Genetics 4 1 3 0 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 1 1 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Phosphorus, Inc. 0 0 0 0 3 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 1 0 0 0 2
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.