ClinVar Miner

Variants studied for polycystic liver disease 1

Included ClinVar conditions (6):
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
17 8 61 42 48 5 168

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 not provided total
PRKCSH 10 7 31 28 32 0 98
SEC63 2 0 25 10 12 0 47
ODAD3, PRKCSH 0 0 3 2 3 0 8
LRP5 0 0 0 0 0 5 5
LOC130063575, PRKCSH 0 0 2 2 1 0 4
PKD1 4 0 0 0 0 0 4
FBN1 0 1 0 0 0 0 1
PKD2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 51 23 47 0 120
Fulgent Genetics, Fulgent Genetics 3 2 9 22 0 0 36
OMIM 7 0 0 0 0 0 7
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 2 0 0 0 0 4 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 1 0 0 0 0 4
Genomics And Bioinformatics Analysis Resource, Columbia University 1 2 0 0 0 0 3
Mendelics 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
DASA 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1

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