ClinVar Miner

Variants studied for autosomal dominant polycystic liver disease

Included ClinVar conditions (17):
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
79 130 747 204 115 5 1240

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LRP5 6 23 360 99 5 5 490
SEC63 30 27 161 35 65 0 303
PRKCSH 14 15 99 35 32 0 185
ALG8 10 35 75 8 0 0 122
PKHD1 7 15 22 10 0 0 54
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
LOC130063575, PRKCSH 0 1 3 2 1 0 6
ALG9 1 0 0 0 4 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
LCA5 1 0 0 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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 12 68 542 145 6 0 773
Illumina Laboratory Services, Illumina 0 0 126 33 93 0 251
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 43 35 59 28 5 4 174
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 16 3 2 0 23
OMIM 17 0 0 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 5 0 0 0 12
Genome-Nilou Lab 0 0 0 0 12 0 12
Yale Center for Mendelian Genomics, Yale University 0 8 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 4 0 0 0 7
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 1 2 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 0 4 3 0 0 0 7
Genomics And Bioinformatics Analysis Resource, Columbia University 1 6 0 0 0 0 7
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
MVZ Medizinische Genetik Mainz 0 1 4 0 0 0 5
Gharavi Laboratory, Columbia University 0 4 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 0 3
3billion 1 1 1 0 0 0 3
Revvity Omics, Revvity 0 2 0 0 0 0 2
Mendelics 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 1 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
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
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 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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