ClinVar Miner

Variants studied for Familial renal glucosuria

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
20 33 203 7 6 258

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC5A2 17 28 166 3 4 210
RUSF1, SLC5A2 1 4 35 4 2 44
LOC130058907, SLC5A2 1 1 1 0 0 2
SLITRK2 0 0 1 0 0 1
SMAD4 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 5 19 123 1 2 150
Illumina Laboratory Services, Illumina 1 0 50 5 4 60
MVZ Medizinische Genetik Mainz 5 6 13 0 0 24
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 4 7 0 0 12
New York Genome Center 1 0 9 0 0 10
OMIM 7 0 0 0 0 7
Revvity Omics, Revvity 0 2 4 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 1 0 5
3billion 0 0 4 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 3 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 2 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Variantyx, Inc. 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 1

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