ClinVar Miner

Variants studied for Polycystic kidney disease

Coded as:
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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 total
180 31 174 195 143 722

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKD1 118 19 143 164 103 547
PKHD1 11 9 9 16 29 73
PKD2 40 2 13 8 7 70
LOC129992813, PKD2 6 0 3 3 3 15
LOC126859690, PKHD1 0 1 2 1 1 5
LOC130058212, PKD1 0 0 0 3 0 3
MIR1225, PKD1 2 0 0 0 0 2
PLCE1 0 0 2 0 0 2
COL4A4 1 0 0 0 0 1
DEUP1 0 0 1 0 0 1
DNAJB11 1 0 0 0 0 1
NPHP3, NPHP3-ACAD11 1 0 0 0 0 1
PIK3CA 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Department of Pathology and Laboratory Medicine, Sinai Health System 166 23 167 193 143 692
Cavalleri Lab, Royal College of Surgeons in Ireland 4 3 1 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 7 0 0 0 0 7
Natera, Inc. 0 2 1 2 1 6
Institute of Human Genetics, University of Wuerzburg 2 1 1 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 0 0 0 3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 1 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 1

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