ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.543C>T (p.Gly181=) (rs555886273)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554212 SCV000655470 likely benign Mental retardation, autosomal dominant 31 2020-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719295 SCV000850161 likely benign History of neurodevelopmental disorder 2016-08-31 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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