ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) (rs33949390)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000032472 SCV000378612 likely benign Parkinson disease 8, autosomal dominant 2017-04-27 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 RCV000032472 SCV001014940 benign Parkinson disease 8, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000032472 SCV001138691 uncertain significance Parkinson disease 8, autosomal dominant 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000032472 SCV000056132 pathologic Parkinson disease 8, autosomal dominant 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.
Codex Genetics Limited RCV000032472 SCV000996007 pathogenic Parkinson disease 8, autosomal dominant 2019-02-28 no assertion criteria provided provider interpretation
Codex Genetics Limited RCV000984891 SCV000996008 likely pathogenic Early onset Alzheimer disease with behavioral disturbance 2019-02-28 no assertion criteria provided provider interpretation
Codex Genetics Limited RCV000984892 SCV000996009 pathogenic Spinocerebellar atrophy 2019-02-28 no assertion criteria provided provider interpretation
Codex Genetics Limited RCV000984893 SCV000996010 pathogenic Klippel-Feil syndrome 1, autosomal dominant; Parkinson disease 8, autosomal dominant 2019-02-28 no assertion criteria provided provider interpretation

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