ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.178G>T (p.Gly60Cys) (rs397507507)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000034327 SCV000058288 pathogenic not provided 2013-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000034327 SCV000208985 pathogenic not provided 2017-09-08 criteria provided, single submitter clinical testing The G60C missense variant in the PTPN11 gene has been reported previously in association with Noonan syndrome (Limal et al., 2006). The G60C variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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