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
63 20 91 28 41 1 222

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Polycystic kidney disease, autosomal dominant 15 1 60 16 16 0 104
not provided 27 17 20 3 25 0 89
Polycystic kidney disease 2 26 2 5 0 0 1 34
not specified 3 0 6 12 17 0 32
Autosomal recessive polycystic kidney disease 2 0 0 0 0 0 2
Inborn genetic diseases 1 0 1 0 0 0 2
Polycystic kidney dysplasia 2 0 0 0 0 0 2
Hydrocele testis; Multiple renal cysts 0 0 1 0 0 0 1
Polycystic kidney dysplasia; Chronic kidney disease; Hypertension 1 0 0 0 0 0 1
Polycystic kidney dysplasia; Elevated systolic blood pressure; Elevated diastolic blood pressure 1 0 0 0 0 0 1
Polycystic liver disease 1; Polycystic kidney dysplasia; Multicystic kidney dysplasia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 44 14 0 0 58
Invitae 15 1 16 2 16 0 50
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 9 1 7 3 10 0 30
Athena Diagnostics Inc 9 2 4 0 7 0 22
Blueprint Genetics, 5 10 5 0 0 0 20
Gharavi Laboratory,Columbia University 12 2 3 0 0 0 17
PreventionGenetics 0 0 0 6 9 0 15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 1 3 2 7 0 15
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 15 0 15
OMIM 11 0 0 0 0 0 11
Department of Pathology and Laboratory Medicine,Sinai Health System 2 0 1 3 5 0 11
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 8 1 1 0 0 0 10
GeneDx 3 1 3 2 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 0 1 0 0 0 5
Institute of Human Genetics,Cologne University 1 1 2 0 0 0 4
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 0 4
Ambry Genetics 1 0 1 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 0 2
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

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