ClinVar Miner

Variants studied for polycystic kidney disease 1

Included ClinVar conditions (3):
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 other not provided total
704 238 561 207 177 4 12 1798

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
PKD1 691 233 556 205 177 4 8 1771
MIR6511B1, PKD1 1 2 1 1 0 0 0 5
LRP5 0 0 0 0 0 0 4 4
MIR1225, PKD1, TSC2 3 2 1 0 0 0 0 4
ALG9 2 0 0 0 0 0 0 2
MIR1225, PKD1 1 0 1 0 0 0 0 2
NTHL1, PKD1, TSC2 2 0 0 0 0 0 0 2
PKD1, TSC2 1 0 1 0 0 0 0 2
LOC130058211, PKD1 1 0 0 0 0 0 0 1
MIR1225, NTHL1, PKD1, TSC2 1 0 0 0 0 0 0 1
PKD1, RAB26 1 0 0 0 0 0 0 1
PKD2 0 1 0 0 0 0 0 1
SLC7A9 0 0 1 0 0 0 0 1
TSC2 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 96
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Fulgent Genetics, Fulgent Genetics 158 34 157 142 16 0 0 507
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 25 8 58 60 161 0 0 312
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 109 20 76 6 0 0 0 211
MVZ Medizinische Genetik Mainz 103 9 88 0 0 0 0 200
Juno Genomics, Hangzhou Juno Genomics, Inc 119 0 0 0 0 0 0 119
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 38 28 43 0 0 0 0 109
Cavalleri Lab, Royal College of Surgeons in Ireland 62 10 20 0 0 0 0 92
Molecular Biology Laboratory, Fundació Puigvert 46 25 0 0 0 4 0 75
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 26 9 24 0 0 0 0 59
Mendelics 17 3 4 4 10 0 0 38
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 11 14 2 0 0 0 37
Centre for Mendelian Genomics, University Medical Centre Ljubljana 9 2 15 1 0 0 0 27
3billion 10 11 6 0 0 0 0 27
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 17 8 0 0 0 0 0 25
Athena Diagnostics 0 0 0 0 24 0 0 24
Baylor Genetics 5 2 16 0 0 0 0 23
Institute of Human Genetics, Cologne University 7 8 8 0 0 0 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 5 0 0 0 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 3 4 14 0 0 0 0 21
Institute of Human Genetics, University of Leipzig Medical Center 7 4 8 1 0 0 0 20
OMIM 16 0 0 0 0 0 0 16
MGZ Medical Genetics Center 8 1 7 0 0 0 0 16
Revvity Omics, Revvity 3 1 8 0 0 0 0 12
Johns Hopkins Genomics, Johns Hopkins University 1 1 8 1 0 0 0 11
Centre for Molecular Medicine & Biobanking, University of Malta 3 4 4 0 0 0 0 11
Centre for Genetic Disorders, Banaras Hindu University 9 0 0 0 0 0 1 10
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 4 5 0 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 5 0 0 0 0 0 9
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 2 3 4 0 0 0 9
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 0 0 0 0 0 0 8 8
Department of Human Genetics, Hannover Medical School 0 7 1 0 0 0 0 8
Eurofins-Biomnis 4 4 0 0 0 0 0 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 5 0 0 0 0 7
Prenatal Diagnosis Center, Inner Mongolia Medical University 7 0 0 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 2 0 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 4 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 1 1 4 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 2 0 0 0 0 0 5
Genesis Genoma Lab, Genesis Genoma Lab 0 4 1 0 0 0 0 5
Genomics And Bioinformatics Analysis Resource, Columbia University 4 1 0 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 2 0 0 0 0 3
University of Iowa Renal Genetics Clinic, University of Iowa 0 1 1 1 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 1 0 0 0 0 0 3
New York Genome Center 1 0 2 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Arkana Molecular Diagnostic Laboratory, Arkana Laboratories 2 0 1 0 0 0 0 3
Illumina Laboratory Services, Illumina 1 0 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Stefan Somlo Laboratory, Yale School of Medicine 2 0 0 0 0 0 0 2
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 2 0 0 0 0 2
Institute of Medical Genetics, Medical University of Vienna 0 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 1 1 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 1 0 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 0 2 0 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
North East Yorkshire Genomic Laboratory Hub 1 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 0 1
Swedish Neurofibromatosis Center, Swedish Medical Center 0 1 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 1 0 0 0 0 0 0 1
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 0 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 1
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 0 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 1
Laboratory of Nephrology, Qingdao Municipal Hospital 0 0 1 0 0 0 0 1
Department of Urology, Hunan Children's Hospital 1 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 0 1
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi 0 0 1 0 0 0 0 1

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