ClinVar Miner

Variants studied for Autosomal recessive polycystic kidney disease

Coded as:
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Gene type:
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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
144 245 341 44 29 5 734

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKHD1 122 239 339 44 29 5 704
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
LOC101927082, PKHD1 0 1 0 0 0 0 1
MIR1225, PKD1 1 0 0 0 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
Counsyl 15 168 105 21 3 0 312
Illumina Clinical Services Laboratory,Illumina 7 3 136 17 15 0 178
Invitae 54 19 97 4 2 0 176
Baylor Genetics 52 29 0 0 0 0 81
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
Mendelics 5 4 2 1 4 0 16
OMIM 9 0 0 0 0 0 9
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
Institute of Human Genetics,Klinikum rechts der Isar 5 2 0 0 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 1 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 1 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 0 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
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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