ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val) (rs34594498)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032405 SCV001020153 benign Parkinson disease 8, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000032405 SCV001271888 benign Parkinson disease 8, autosomal dominant 2018-01-12 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.
GeneReviews RCV000032405 SCV000056061 pathologic Parkinson disease 8, autosomal dominant 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.

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