ClinVar Miner

Variants studied for Renal carnitine transport defect

Coded as:
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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
62 68 136 13 17 110 299

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 62 67 133 9 13 104 286
MIR3936HG, SLC22A5 0 1 3 4 3 6 12
RNF167 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 40 4 83 4 0 0 131
Research and Development, ARUP Laboratories 0 0 0 0 0 110 110
Counsyl 5 58 28 0 3 0 94
Illumina Clinical Services Laboratory,Illumina 4 1 26 8 8 0 47
OMIM 21 0 0 0 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 1 3 1 8 0 17
Integrated Genetics/Laboratory Corporation of America 13 2 0 0 0 0 15
Baylor Genetics 10 1 0 0 0 0 11
Fulgent Genetics,Fulgent Genetics 4 1 3 0 0 0 8
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 1 0 0 0 0 2
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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1

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