ClinVar Miner

Variants studied for Cystinuria

Coded as:
Minimum submission review status: Collection method:
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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
87 51 223 72 33 418

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
SLC3A1 43 25 125 47 17 230
SLC7A9 24 17 64 12 13 119
PREPL, SLC3A1 20 7 34 13 3 67
CENPF 0 1 0 0 0 1
CEP89, SLC7A9 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 46 9 78 56 19 208
Illumina Laboratory Services, Illumina 8 0 119 7 16 150
Fulgent Genetics, Fulgent Genetics 15 11 39 15 1 81
Revvity Omics, Revvity Omics 6 7 15 0 0 28
OMIM 24 0 0 0 0 24
3billion 3 3 2 0 0 8
Department of Urology, Hunan Children's Hospital 0 4 4 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 1 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 4 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 1 3 0 0 5
College of Medicine Research Centre, King Saud Univeristy 1 2 2 0 0 5
Molecular Biology Laboratory, Fundació Puigvert 1 4 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 3 4
Genome-Nilou Lab 0 0 0 0 4 4
Institute of Human Genetics, Cologne University 2 0 1 0 0 3
MGZ Medical Genetics Center 0 2 1 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 3 0 0 0 0 3
Sydney Genome Diagnostics, Children's Hospital Westmead 2 0 1 0 0 3
Biotechnology Lab, University of Central Punjab 2 0 0 0 1 3
Baylor Genetics 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 2
Mendelics 1 0 0 0 1 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 1 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 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
Lifecell International Pvt. Ltd 0 1 0 0 0 1
DASA 0 1 0 0 0 1
Arcensus 0 1 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 1 0 0 0 0 1

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