ClinVar Miner

Variants in gene PKHD1

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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 protective not provided total
114 225 725 111 119 1 3 1153

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Autosomal recessive polycystic kidney disease 67 197 309 61 69 0 3 639
not provided 65 35 479 10 20 0 0 598
not specified 0 0 20 66 93 0 0 160
Polycystic kidney dysplasia 4 0 0 0 0 0 0 4
Inborn genetic diseases 0 0 3 0 0 0 0 3
Abnormality of the intrahepatic bile duct 2 0 0 0 0 0 0 2
Polycystic kidney dysplasia; Oligohydramnios; Periportal fibrosis 1 0 1 0 0 0 0 2
Polycystic kidney dysplasia; Renal cyst; Ventricular hypertrophy 2 0 0 0 0 0 0 2
Colorectal cancer, protection against 0 0 0 0 0 1 0 1
Homocystinuria due to CBS deficiency 0 1 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 1
See cases 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 54 6 439 25 70 0 0 594
Counsyl 13 164 105 21 3 0 0 306
Invitae 30 7 69 23 52 0 0 181
Illumina Clinical Services Laboratory,Illumina 7 3 136 17 15 0 0 178
PreventionGenetics 0 0 0 38 67 0 0 105
Integrated Genetics/Laboratory Corporation of America 16 16 26 11 20 0 0 89
Blueprint Genetics, 9 18 18 0 0 0 0 45
Department of Pathology and Laboratory Medicine,Sinai Health System 2 2 4 2 22 0 0 32
Fulgent Genetics 6 3 20 0 0 0 0 29
GeneDx 9 7 6 3 0 0 0 25
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 5 0 4 5 3 0 0 17
Gharavi Laboratory,Columbia University 2 3 8 0 0 0 0 13
OMIM 9 0 0 0 0 1 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 6 1 0 0 0 0 9
SIB Swiss Institute of Bioinformatics 0 0 3 1 5 0 0 9
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 2 4 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 0 1 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 1 4 0 0 6
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 6 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 2 1 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 1 0 0 0 3
Ambry Genetics 0 0 3 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 1 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 2 0 0 0 0 0 0 2
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 2 0 0 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
ISCA site 6 0 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 0 1

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