ClinVar Miner

Variants studied for Polycystic kidney disease 2

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 not provided total
100 31 150 35 20 1 321

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKD2 91 27 123 32 14 0 273
LOC129992813, PKD2 8 4 27 3 6 1 47
FAM13A, PKD2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 41 5 48 17 1 0 112
Illumina Laboratory Services, Illumina 1 0 78 19 7 0 105
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 12 2 4 1 14 0 33
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 0 4 0 0 0 16
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 11 3 1 0 0 0 15
Cavalleri Lab, Royal College of Surgeons in Ireland 11 3 1 0 0 0 15
OMIM 11 0 0 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 0 4 0 0 0 9
MGZ Medical Genetics Center 7 1 0 0 0 0 8
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 5 3 0 0 0 0 8
Molecular Biology Laboratory, Fundació Puigvert 8 0 0 0 0 0 8
Institute of Human Genetics, Cologne University 1 1 5 0 0 0 7
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 0 2 0 0 0 6
3billion 2 3 1 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 0 0 0 0 5
Baylor Genetics 2 0 2 0 0 0 4
Revvity Omics, Revvity Omics 0 0 4 0 0 0 4
Mendelics 0 1 1 0 1 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 2 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 0 0 0 0 1
Centre for Molecular Medicine & Biobanking, University of Malta 0 1 0 0 0 0 1

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