ClinVar Miner

Variants studied for Autosomal recessive polycystic kidney disease

Coded as:
Minimum submission review status: Collection method:
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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
104 204 310 61 69 3 677

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKHD1 82 199 308 61 69 3 648
PKD1 17 5 2 0 0 0 24
LOC105371049, PKD1 2 0 0 0 0 0 2
PKD2 2 0 0 0 0 0 2
MIR1225, PKD1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 13 164 105 21 3 0 306
Invitae 30 7 69 23 52 0 181
Illumina Clinical Services Laboratory,Illumina 7 3 136 17 15 0 178
Integrated Genetics/Laboratory Corporation of America 16 16 0 0 0 0 32
Department of Pathology and Laboratory Medicine,Sinai Health System 24 7 0 0 0 0 31
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 26 4 0 0 0 0 30
Fulgent Genetics 6 3 20 0 0 0 29
OMIM 9 0 0 0 0 0 9
SIB Swiss Institute of Bioinformatics 0 0 3 1 5 0 9
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 2 4 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 5 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 1 4 0 6
Broad Institute Rare Disease Group,Broad Institute 2 0 2 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 1 0 0 2
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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