ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.621C>T (p.Asp207=) (rs142688247)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500255 SCV000596634 uncertain significance not specified 2016-09-15 criteria provided, single submitter clinical testing
Invitae RCV000538440 SCV000655472 likely benign Mental retardation, autosomal dominant 31 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719620 SCV000850489 likely benign History of neurodevelopmental disorder 2016-09-13 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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