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
48 8 127 21 70 256

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 10 4 56 4 40 113
Parkinson disease 2 37 4 22 5 14 77
Parkinson Disease, Juvenile 0 0 34 9 1 44
See cases 1 0 14 3 12 30
not specified 0 0 2 1 7 10
Neoplasm of ovary 2 0 0 0 0 2
Abnormality of esophagus morphology 0 0 0 0 1 1
Autistic disorder of childhood onset 0 1 0 0 0 1
Leprosy 2; Lung cancer; Parkinson disease 2; Neoplasm of ovary 1 0 0 0 0 1
Premature ovarian failure 0 0 0 0 1 1
Schizophrenia 0 1 0 0 0 1
Young-onset Parkinson disease 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 29 2 31 5 11 78
Illumina Clinical Services Laboratory,Illumina 3 1 35 9 1 49
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
OMIM 21 0 0 0 0 21
GeneDx 0 0 2 0 6 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 1 5 7
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 7 0 0 7
Athena Diagnostics Inc 1 2 1 0 2 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 4 0 0 6
ISCA site 6 0 0 0 0 5 5
PreventionGenetics 0 0 0 0 4 4
GeneReviews 0 0 0 0 4 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 Cytogenomics Laboratory,Center for Precision Diagnostics, University of Washington 0 0 2 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 1 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Department of Psychiatry,Nagoya University 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
ISCA site 2 0 0 0 0 1 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

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