ClinVar Miner

Variants studied for hereditary renal hypouricemia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
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 association total
20 10 113 27 57 3 212

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association total
SLC22A12 9 3 75 13 15 0 111
SLC2A9 10 7 38 13 40 3 98
LOC129992244, SLC2A9 0 0 0 1 2 0 2
LOC126806970, LOC129992239, SLC2A9 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Illumina Laboratory Services, Illumina 2 1 86 9 51 0 149
Fulgent Genetics, Fulgent Genetics 2 5 22 19 5 0 53
OMIM 15 0 0 0 0 3 18
Genome-Nilou Lab 0 0 0 0 14 0 14
Revvity Omics, Revvity 2 2 6 0 0 0 10
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 5 0 0 0 0 0 5
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 3 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 1 0 0 0 3
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 0 3 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
3billion 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Department of Urology, Hunan Children's Hospital 0 0 1 0 0 0 1

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