ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) (rs55774500)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000007454 SCV000288585 benign Parkinson disease 2 2017-10-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455485 SCV000539992 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Identified in 1/344 patients with PD and in 0/340 controls. No new evidence since then. Several publications in HGMD describe it as polymorphism/ non pathogenic
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762444 SCV000892764 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
OMIM RCV000007454 SCV000027654 pathogenic Parkinson disease 2 2001-08-01 no assertion criteria provided literature only

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