ClinVar Miner

Variants studied for Renal carnitine transport defect

Coded as:
Minimum submission review status: Collection method:
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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
53 61 106 29 20 110 282

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC22A5 53 60 103 25 16 104 269
MIR3936HG, SLC22A5 0 1 3 4 3 6 12
RNF167 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 19
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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 0 110 110
Counsyl 4 53 23 0 3 0 83
Illumina Clinical Services Laboratory,Illumina 4 1 26 8 8 0 47
OMIM 21 0 0 0 0 0 21
Integrated Genetics/Laboratory Corporation of America 13 2 0 0 0 0 15
Fulgent Genetics 4 1 3 0 0 0 8
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
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 1 0 0 0 0 2
Heart Center,Academic Medical Center Amsterdam 1 0 0 0 1 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1

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