ClinVar Miner

Variants studied for Familial renal glucosuria

Coded as:
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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 total
12 10 84 5 6 112

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 total
SLC5A2 10 9 61 2 4 83
RUSF1, SLC5A2 1 0 23 3 2 28
LOC130058907, SLC5A2 1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 0 52 5 4 62
Fulgent Genetics, Fulgent Genetics 1 4 13 0 2 20
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 4 7 0 0 12
New York Genome Center 1 0 9 0 0 10
MVZ Medizinische Genetik Mainz 3 1 6 0 0 10
OMIM 7 0 0 0 0 7
Revvity Omics, Revvity 0 2 3 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 1
3billion 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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