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
124 131 391 87 35 685

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 65 62 212 58 19 371
SLC7A9 35 54 114 14 13 206
PREPL, SLC3A1 24 13 65 15 3 106
CENPF 0 1 0 0 0 1
CEP89, SLC7A9 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 24 60 207 17 1 309
Labcorp Genetics (formerly Invitae), Labcorp 58 9 84 69 21 241
Illumina Laboratory Services, Illumina 8 0 117 7 16 148
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 27 28 0 0 0 55
Revvity Omics, Revvity 6 7 15 0 0 28
OMIM 24 0 0 0 0 24
Department of Pathology and Laboratory Medicine, Sinai Health System 2 3 11 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 2 2 0 0 12
3billion 3 3 3 0 0 9
Department of Urology, Hunan Children's Hospital 0 4 4 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 3 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 1 3 0 0 6
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
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
Neuberg Centre For Genomic Medicine, NCGM 1 1 3 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 3 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 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 1 0 1 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
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
Genetics Department, Catlab 0 2 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 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
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1

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