ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu) (rs34410987)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000032422 SCV000378583 likely benign Parkinson disease 8, autosomal dominant 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000032422 SCV001021800 benign Parkinson disease 8, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
GeneReviews RCV000032422 SCV000056078 pathologic Parkinson disease 8, autosomal dominant 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.

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