ClinVar Miner

Variants studied for autosomal dominant polycystic liver disease

Included ClinVar conditions (14):
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
74 74 371 195 114 5 804

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LRP5 5 6 161 95 4 5 271
SEC63 28 15 111 35 65 0 242
PRKCSH 13 11 33 30 32 0 109
PKHD1 7 15 22 10 0 0 54
ALG8 10 12 15 8 0 0 44
GANAB 5 3 2 0 5 0 15
LRP6 0 1 7 2 0 0 10
ODAD3, PRKCSH 0 0 3 2 3 0 8
ALG9 1 0 0 0 4 0 5
LOC130063575, PRKCSH 0 1 2 2 1 0 5
CDC25A 0 1 1 2 0 0 4
PKD1 4 0 0 0 0 0 4
PKD2 1 1 1 1 0 0 4
HNF1B 0 0 2 1 0 0 3
HNF4A 0 1 2 0 0 0 3
LOC130067168, XBP1 0 0 0 3 0 0 3
ONECUT2 0 0 3 0 0 0 3
CTNNB1 0 1 0 1 0 0 2
DKK3 0 2 0 0 0 0 2
ONECUT1 0 0 2 0 0 0 2
RUVBL1, SEC61A1 0 1 1 0 0 0 2
ALG8, LOC130006492 0 0 0 1 0 0 1
CTNNB1, LOC126806659 0 1 0 0 0 0 1
DKK3, LOC130005346 0 0 1 0 0 0 1
FBN1 0 1 0 0 0 0 1
HHEX, LOC130004359 0 0 1 0 0 0 1
HNF1B, LOC126862549 0 0 1 0 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 0 1
NF2 0 0 0 1 0 0 1
SEC61A2 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 10 17 177 138 6 0 348
Illumina Laboratory Services, Illumina 0 0 127 33 93 0 252
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 43 35 59 28 5 4 174
OMIM 17 0 0 0 0 0 17
Genome-Nilou Lab 0 0 0 0 12 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 4 0 0 0 8
Yale Center for Mendelian Genomics, Yale University 0 8 0 0 0 0 8
Genomics And Bioinformatics Analysis Resource, Columbia University 1 6 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 3 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 1 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 1 1 0 0 0 5
Stefan Somlo Laboratory, Yale School of Medicine 1 0 0 0 4 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
Revvity Omics, Revvity 0 2 0 0 0 0 2
Mendelics 0 1 1 0 0 0 2
3billion 0 1 1 0 0 0 2
DASA 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Arkana Molecular Diagnostic Laboratory, Arkana Laboratories 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1

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