ClinVar Miner

Variants studied for Cystinuria

Coded as:
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 total
40 10 128 13 25 199

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 total
SLC3A1 16 2 67 8 11 91
SLC7A9 18 4 44 4 12 79
PREPL, SLC3A1 6 3 17 1 2 28
CEP89, SLC7A9 0 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 Clinical Services Laboratory,Illumina 8 0 119 7 16 150
Invitae 14 3 8 6 8 39
OMIM 24 0 0 0 0 24
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 2 1 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 4 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 3 4
Reproductive Health Research and Development,BGI Genomics 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
CSER _CC_NCGL, University of Washington 0 1 1 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1

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