ClinVar Miner

Variants studied for autosomal recessive polycystic kidney disease

Included ClinVar conditions (2):
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
113 209 342 61 69 5 723

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKHD1 87 203 340 61 69 5 689
PKD1 17 5 2 0 0 0 24
DZIP1L 4 0 0 0 0 0 4
LOC105371049, PKD1 2 0 0 0 0 0 2
PKD2 2 0 0 0 0 0 2
LOC101927082, PKHD1 0 1 0 0 0 0 1
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 54 19 102 23 52 0 250
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
Fulgent Genetics,Fulgent Genetics 6 3 20 0 0 0 29
OMIM 13 0 0 0 0 0 13
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 6 1 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 1 4 0 6
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 4 0 0 0 0 4
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
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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 1 0 0 2
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 2 0 0 0 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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