ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) (rs1801582)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173805 SCV000224957 benign not specified 2015-05-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173805 SCV000310473 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327056 SCV000461687 likely benign Parkinson Disease, Juvenile 2016-06-14 criteria provided, single submitter clinical testing
GeneReviews RCV000034120 SCV000058050 benign Parkinson disease 2 2001-04-17 no assertion criteria provided curation Converted during submission to Benign.

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