ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.329A>C (p.Glu110Ala) (rs397507519)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033485 SCV000057390 pathogenic not provided 2015-04-29 criteria provided, single submitter clinical testing The E110A missense mutation in the PTPN11 gene has been reported previously in association with autosomal dominant Noonan syndrome (Zenker et al., 2004). E110A has also been observed in other unrelated individuals tested for Noonan syndrome at GeneDx. The variant is found in NOONAN panel(s).

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