ClinVar Miner

Variants studied for Autosomal dominant polycystic kidney disease

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 total
112 50 331 205 110 804

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKD2 50 13 206 142 32 440
PKD1 44 36 32 25 69 205
LOC129992813, PKD2 10 0 82 37 8 137
PKHD1 1 0 2 1 0 4
GANAB 1 0 2 0 0 3
LOC123477784, LOC129992813, LOC129992814, PKD2 2 0 0 0 0 2
LRP6 0 0 2 0 0 2
ABCG2, DMP1, DSPP, FAM13A, GPRIN3, HERC3, HERC5, HERC6, HSD17B11, HSD17B13, IBSP, KLHL8, MEPE, NAP1L5, NUDT9, PIGY, PKD2, PPM1K, PYURF, SNCA, SPARCL1, SPP1, TIGD2 1 0 0 0 0 1
ABCG2, DMP1, DSPP, IBSP, MEPE, PKD2, PPM1K, SPP1 0 0 1 0 0 1
BRICD5, CASKIN1, DNASE1L2, E4F1, MLST8, PGP, PKD1, RAB26, TRAF7 1 0 0 0 0 1
DKK3 0 0 1 0 0 1
DKK3, LOC130005346 0 0 1 0 0 1
DNAJB11 0 1 0 0 0 1
IFT140 1 0 0 0 0 1
LOC130058212, LOC130058213, MIR3180-5, MIR4516, PKD1 1 0 0 0 0 1
LRP5 0 0 1 0 0 1
MIR1225, PKD1 0 0 0 0 1 1
ONECUT2 0 0 1 0 0 1
PKD1, RAB26 1 0 0 0 0 1
PKD2, SPP1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 51 10 281 176 37 555
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 16 20 17 24 72 149
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 36 15 22 1 0 74
Molecular Genetics, Royal Melbourne Hospital 7 2 5 1 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 4 0 2 2 3 11
Illumina Laboratory Services, Illumina 0 0 4 1 0 5
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 1

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