ClinVar Miner

Variants in gene PRKN

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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 total
78 47 203 48 80 428

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 41 11 113 31 49 238
Parkinson disease 2 38 5 89 16 22 164
See cases 2 0 15 3 12 32
Schizophrenia 0 20 0 0 0 20
Young-onset Parkinson disease 10 7 0 0 0 16
not specified 0 0 2 1 7 10
Autistic disorder of childhood onset 0 5 0 0 0 5
Parkinson Disease, Juvenile 0 0 5 0 0 5
Neoplasm of ovary 1 1 0 0 0 2
Abnormality of esophagus morphology 0 0 0 0 1 1
Leprosy 2; Lung carcinoma; Parkinson disease 2; Neoplasm of ovary 1 0 0 0 0 1
Premature ovarian failure 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 46 4 56 22 15 143
Illumina Clinical Services Laboratory,Illumina 3 1 75 14 17 110
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 3 3 38 44
Lineagen, Inc 1 0 30 0 0 31
Department of Psychiatry,Nagoya University 0 25 0 0 0 25
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 20 3 0 23
OMIM 21 0 0 0 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 5 5 8 1 0 19
Fulgent Genetics,Fulgent Genetics 10 7 0 0 0 16
Athena Diagnostics Inc 6 2 1 1 4 14
GeneDx 1 1 2 0 6 10
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 1 5 7
ISCA site 6 0 0 0 0 5 5
Baylor Genetics 2 0 2 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 0 4 4
GeneReviews 0 0 0 0 4 4
Institute of Human Genetics, Klinikum rechts der Isar 4 0 0 0 0 4
ISCA site 1 1 0 2 1 0 4
ISCA site 4 0 0 3 1 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 1 1 4
ISCA site 14 0 0 3 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 1 0 0 2
Cytogenetics and Genomics Laboratory,University of Washington 0 0 2 0 0 2
Clinical Genomics Laboratory,Laboratory for Precision Diagnostics, University of Washington 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 0 2 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 0 1 0 1
Mendelics 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
ISCA site 2 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 1 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 1

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