ClinVar Miner

Variants studied for Renal carnitine transport defect

Coded as:
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 not provided total
196 190 444 435 38 4 1132

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC22A5 191 189 439 433 30 4 1113
LOC129994569, MIR3936HG, SLC22A5 2 1 5 2 6 0 14
ACSL6, CDC42SE2, CSF2, FNIP1, HINT1, IL3, LYRM7, P4HA2, PDLIM4, RAPGEF6, SLC22A4, SLC22A5 1 0 0 0 0 0 1
LOC129994570, LOC129994571, LOC129994572, SLC22A5 1 0 0 0 0 0 1
MIR3936HG, SLC22A5 0 0 0 0 1 0 1
P4HA2, PDLIM4, SLC22A4, SLC22A5 1 0 0 0 0 0 1
RNF167 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 175 53 294 408 19 0 949
Giacomini Lab, University of California, San Francisco 5 9 109 27 0 0 150
Genome-Nilou Lab 36 30 45 14 22 0 147
Natera, Inc. 29 3 92 10 5 0 139
Baylor Genetics 52 65 5 0 0 0 122
Counsyl 4 54 28 0 3 0 89
Illumina Laboratory Services, Illumina 4 2 63 5 15 0 89
Fulgent Genetics, Fulgent Genetics 16 12 29 2 2 0 61
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 39 20 0 0 0 0 59
Revvity Omics, Revvity 16 7 8 0 0 0 31
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 8 2 4 2 12 0 28
OMIM 23 0 0 0 0 0 23
Myriad Genetics, Inc. 2 9 2 0 0 0 13
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 4 0 0 0 0 9
Pars Genome Lab 0 0 1 1 7 0 9
Mendelics 6 1 0 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 2 0 0 0 6
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 4 0 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 0 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 0 1 3 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 2 1 0 0 0 4
Centogene AG - the Rare Disease Company 1 0 2 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 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
Heart Center, Academic Medical Center Amsterdam 1 0 0 0 1 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
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 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
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
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
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1

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