ClinVar Miner

Variants studied for Polycystic liver disease 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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
9 0 69 76 33 4 190

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
SEC63 2 50 49 27 0 127
PRKCSH 7 16 23 5 0 51
CCDC151, PRKCSH 0 3 4 1 0 8
LRP5 0 0 0 0 4 4

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 69 76 32 0 176
OMIM 7 0 0 0 0 7
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 2 0 0 0 4 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1

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