ClinVar Miner

Variants in gene combination LOC105371049, PKD1

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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
32 17 20 16 14 1 96

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 13 12 6 6 11 0 48
not specified 3 1 8 10 12 0 32
Polycystic kidney disease, adult type 13 3 8 0 5 1 30
Autosomal recessive polycystic kidney disease 2 0 0 0 0 0 2
Polycystic kidney dysplasia 1 1 0 0 0 0 2
Inborn genetic diseases 1 0 0 0 0 0 1
Polycystic kidney dysplasia; Hypertension 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 7 1 3 6 9 0 26
Athena Diagnostics Inc 5 2 6 4 8 0 25
PreventionGenetics 0 0 0 6 11 0 17
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 7 2 5 0 0 0 14
Department of Pathology and Laboratory Medicine,Sinai Health System 2 0 2 1 6 0 11
Blueprint Genetics, 3 6 1 0 0 0 10
Gharavi Laboratory,Columbia University 3 2 1 0 0 0 6
OMIM 3 0 0 0 0 0 3
GeneDx 0 2 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 1 2 0 0 0 3
Institute of Human Genetics,University of Wuerzburg 1 1 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 0 2
Ambry Genetics 1 0 0 0 0 0 1
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 0 0 0 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Centre for Genetic Disorders, Banaras Hindu University 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1

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