ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.491del (p.Val164fs)

dbSNP: rs2128330405
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Istanbul Faculty of Medicine, Istanbul University RCV001789789 SCV001733595 pathogenic Autosomal recessive juvenile Parkinson disease 2 2017-03-24 no assertion criteria provided clinical testing Identified in index patient

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