ClinVar Miner

Variants in gene PKD2

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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
128 39 188 62 54 1 429

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Polycystic kidney disease 2 62 15 97 20 20 1 210
not provided 39 23 31 22 27 0 138
Autosomal dominant polycystic kidney disease 26 2 47 16 26 0 115
Polycystic kidney disease 46 2 16 11 10 0 85
not specified 3 0 6 9 16 0 30
Inborn genetic diseases 1 0 1 0 0 0 2
Autosomal recessive polycystic kidney disease 1 0 0 0 0 0 1
Hydrocele testis; Multiple renal cysts 0 0 1 0 0 0 1
Joubert syndrome 7 0 0 0 0 1 0 1
Polycystic kidney disease, adult type 0 1 0 0 0 0 1
Polycystic kidney disease; Chronic kidney disease; Hypertensive disorder 1 0 0 0 0 0 1
Polycystic kidney disease; Elevated systolic blood pressure; Elevated diastolic blood pressure 1 0 0 0 0 0 1
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 22 2 43 29 25 0 121
Illumina Clinical Services Laboratory,Illumina 0 0 82 20 7 0 109
Department of Pathology and Laboratory Medicine,Sinai Health System 45 2 19 12 10 0 88
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 21 4 12 3 18 0 58
Athena Diagnostics Inc 18 3 9 0 12 0 42
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 14 5 2 2 5 0 28
Blueprint Genetics 5 10 5 0 0 0 20
Gharavi Laboratory,Columbia University 12 2 3 0 0 0 17
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 15 0 15
PreventionGenetics, PreventionGenetics 0 0 0 6 9 0 15
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 1 3 2 7 0 15
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 0 5 0 0 0 12
OMIM 11 0 0 0 0 0 11
GeneDx 3 1 3 2 0 0 9
Molecular Biology Laboratory, Fundació Puigvert 8 1 0 0 0 0 9
Baylor Genetics 2 0 2 0 0 0 4
Institute of Human Genetics,Cologne University 1 1 2 0 0 0 4
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 2 0 0 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 2 0 0 0 4
Mendelics 0 1 1 0 1 0 3
Ambry Genetics 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 0 0 2
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 0 2 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 1 0 0 0 0 0 1

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