ClinVar Miner

Variants studied for Polycystic kidney disease, autosomal dominant

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
33 13 54 29 93 220

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKD1 10 10 16 20 62 118
PKD2 22 2 35 7 26 90
LOC105371049, PKD1 0 1 1 2 4 8
GANAB 1 0 2 0 0 3
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
BRICD5, CASKIN1, DNASE1L2, E4F1, MLST8, PGP, PKD1, RAB26, TRAF7 1 0 0 0 0 1
MIR1225, PKD1 0 0 0 0 1 1
PKD1, RAB26 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 15 11 17 24 72 139
Invitae 18 2 31 4 23 78
Illumina Clinical Services Laboratory,Illumina 0 0 4 1 0 5
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 1 0 2 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 1 0 0 0 0 1

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