ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.2857T>C (p.Leu953=)

gnomAD frequency: 0.08994  dbSNP: rs7966550
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000032430 SCV000378589 benign Autosomal dominant Parkinson disease 8 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000712238 SCV000842682 benign not provided 2017-08-14 criteria provided, single submitter clinical testing
Invitae RCV000032430 SCV001730773 benign Autosomal dominant Parkinson disease 8 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000712238 SCV001939666 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000032430 SCV002795076 benign Autosomal dominant Parkinson disease 8 2021-09-29 criteria provided, single submitter clinical testing
GeneReviews RCV000032430 SCV000056086 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579630 SCV001807946 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579630 SCV001971501 benign not specified no assertion criteria provided clinical testing

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