ClinVar Miner

Variants studied for Polycystic kidney disease 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
26 2 5 0 0 1 34

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
PKD2 26 2 5 1 34

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance not provided total
OMIM 11 0 0 0 11
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 8 1 1 0 10
Institute of Human Genetics,Cologne University 1 1 2 0 4
Fulgent Genetics,Fulgent Genetics 3 0 1 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1

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