ClinVar Miner

Variants in gene LRRK2

Minimum submission review status: Collection method:
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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 risk factor total
17 3 280 85 70 2 382

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Parkinson disease 8, autosomal dominant 15 1 265 60 64 1 341
not provided 3 1 22 36 16 0 78
not specified 0 0 2 0 5 0 7
Parkinson disease, late-onset 1 0 2 0 0 0 3
Hereditary late onset Parkinson disease 2 0 0 0 0 0 2
Early onset Alzheimer disease with behavioral disturbance 0 1 0 0 0 0 1
Frontotemporal dementia; Parkinsonism; Rigidity; Brain atrophy 0 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Klippel-Feil syndrome 1, autosomal dominant; Parkinson disease 8, autosomal dominant 1 0 0 0 0 0 1
Parkinson Disease, Dominant 0 0 0 1 0 0 1
Parkinson disease 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1
Spinocerebellar atrophy 1 0 0 0 0 0 1
Young-onset Parkinson disease 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 85 40 43 0 167
Invitae 3 1 63 52 35 0 154
GeneReviews 15 0 127 0 0 0 142
Athena Diagnostics Inc 1 0 3 0 17 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 11 3 0 0 17
Mendelics 1 0 10 1 0 0 12
OMIM 7 0 0 0 0 1 8
GeneDx 1 1 6 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 8 0 0 0 8
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 2 0 0 5
Baylor Genetics 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 0 2 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 0 2
Neurogenetic Laboratory,Oslo University Hospital 0 0 2 0 0 0 2
Codex Genetics Limited 2 1 0 0 0 0 2
Ambry Genetics 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Zabetian_UW Neurogenetics Lab, University of Washington/VAPSHCS 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1

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