ClinVar Miner

Variants studied for autosomal recessive juvenile Parkinson disease 2

Included ClinVar conditions (3):
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
44 12 93 24 20 4 184

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
PRKN 35 9 81 21 18 3 157
LOC126859871, PRKN 6 1 4 2 2 1 13
PACRG, PRKN 2 1 6 1 0 0 10
LOC105378098, LOC121132714, LOC123881358, LOC126859868, LOC129389718, LOC129997634, LOC129997635, LOC129997636, PRKN 0 0 1 0 0 0 1
LOC126859869, LOC126859870, LOC126859871, PRKN 1 0 0 0 0 0 1
LOC126859871, PACRG, PRKN 0 0 1 0 0 0 1
LOC129999375, PODXL 0 1 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
Illumina Laboratory Services, Illumina 3 1 76 15 17 0 112
Fulgent Genetics, Fulgent Genetics 4 2 8 7 3 0 24
OMIM 21 0 0 0 0 0 21
Invitae 13 1 5 0 0 0 19
Centogene AG - the Rare Disease Company 6 1 0 0 0 0 7
Revvity Omics, Revvity 2 2 2 0 0 0 6
Baylor Genetics 2 0 2 0 0 0 4
GeneReviews 0 0 0 0 1 3 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 0 2 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 2 0 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 1 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 2 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 0 1 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Prof. Thelma's Laboratory, Department of Genetics, University of Delhi South Campus 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 1

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