ClinVar Miner

Variants in gene PKD1

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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 not provided total
231 130 321 177 214 9 995

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 125 91 157 33 73 3 469
Polycystic kidney disease, adult type 89 26 81 39 141 6 372
not specified 11 0 87 113 118 0 308
Autosomal recessive polycystic kidney disease 17 5 2 0 0 0 24
Inborn genetic diseases 2 1 3 0 0 0 6
Polycystic kidney disease 3 1 4 0 0 0 0 5
Polycystic kidney dysplasia 3 0 1 0 0 0 4
Talipes equinovarus; Polycystic kidney dysplasia; Narrow chest; Hyperechogenic kidneys 0 0 2 0 0 0 2
Elevated serum creatine phosphokinase; Polycystic kidney dysplasia; Achilles tendon contracture; Lower limb amyotrophy; Lower limb muscle weakness 0 1 0 0 0 0 1
Hepatic cysts; Pancreatic cysts; Multiple renal cysts 0 1 0 0 0 0 1
Multiple renal cysts; Hypertension 1 0 0 0 0 0 1
Polycystic kidney disease, autosomal dominant 1 0 0 0 0 0 1
Polycystic kidney dysplasia; Abnormality of the kidney; Multicystic kidney dysplasia 0 1 0 0 0 0 1
Polycystic kidney dysplasia; Hemangioma; Enlarged kidney 0 1 0 0 0 0 1
Polycystic kidney dysplasia; Hypertension 1 0 0 0 0 0 1
Polycystic kidney dysplasia; Moderate sensorineural hearing impairment; 3-4 toe syndactyly 0 1 0 0 0 0 1
Polycystic kidney dysplasia; Renal insufficiency 0 1 0 0 0 0 1
Polycystic liver disease 1; Polycystic kidney dysplasia 1 0 0 0 0 0 1
Polycystic liver disease 1; Polycystic kidney dysplasia; Multicystic kidney dysplasia; Cystic renal dysplasia 1 0 0 0 0 0 1
Proteinuria; Renal cyst 0 0 1 0 0 0 1
Renal cyst; Hepatic cysts; Pancreatic cysts; Renovascular hypertension; Hypertension 0 1 0 0 0 0 1
Renal insufficiency 0 1 0 0 0 0 1
Seizures; Hemivertebrae; Polycystic kidney dysplasia; Secundum atrial septal defect; Missing ribs; Dry skin; Abnormality of the nail; Abnormal cortical gyration; Hyperechogenic kidneys; Periventricular gray matter heterotopia; Plantar crease between first and second toes; Overlapping fingers 0 0 1 0 0 0 1
Stage 5 chronic kidney disease; Hepatic cysts; Dilatation of the cerebral artery 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 44 14 62 59 162 0 341
Athena Diagnostics Inc 52 21 98 25 102 0 298
PreventionGenetics,PreventionGenetics 0 0 1 74 71 0 145
Department of Pathology and Laboratory Medicine,Sinai Health System 17 5 27 26 58 0 133
Blueprint Genetics 17 31 34 0 0 0 82
Gharavi Laboratory,Columbia University 41 21 13 1 0 0 76
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 27 16 31 0 0 0 74
GeneDx 18 7 27 5 0 0 57
Mendelics 9 2 9 4 3 0 27
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 6 4 0 0 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 10 1 0 0 14
OMIM 13 0 0 0 0 0 13
Institute of Human Genetics,Cologne University 5 5 2 0 0 0 12
Fulgent Genetics,Fulgent Genetics 6 0 3 0 0 0 9
Centre for Genetic Disorders, Banaras Hindu University 8 0 0 0 0 1 9
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 3 0 6 0 0 0 9
Ambry Genetics 2 1 3 0 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 5 0 5
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 4 0 0 0 0 5
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 0 0 0 0 0 3 3
Department of Plant Molecular and Cellular Biology Adam Mickiewicz University 0 0 0 0 0 3 3
Institute of Human Genetics,University of Wuerzburg 1 1 1 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 2 0 0 0 3
Broad Institute Rare Disease Group,Broad Institute 0 1 2 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 1 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
MVZ Dortmund,Dr. Eberhard & Partner 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Department of Urology,The First Affiliated Hospital of Henan University of Traditional Chinese Medicine 0 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 0 1

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