ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.132_134CGG[6] (p.Gly49dup) (rs754074166)

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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 RCV000504468 SCV000596636 uncertain significance not specified 2016-09-07 criteria provided, single submitter clinical testing
Invitae RCV000536830 SCV000655466 likely benign Mental retardation, autosomal dominant 31 2019-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716871 SCV000847715 likely benign History of neurodevelopmental disorder 2017-12-18 criteria provided, single submitter clinical testing Other data supporting benign classification;Subpopulation frequency in support of benign classification

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