ClinVar Miner

Submissions for variant NM_015488.5(PNKD):c.97G>C (p.Ala33Pro) (rs121434513)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000858413 SCV000766702 benign Paroxysmal non-kinesigenic dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000001971 SCV000022129 pathogenic Paroxysmal nonkinesigenic dyskinesia 1 2009-03-15 no assertion criteria provided literature only
GeneReviews RCV000001971 SCV000998894 pathogenic Paroxysmal nonkinesigenic dyskinesia 1 2019-03-27 no assertion criteria provided literature only

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