ClinVar Miner

Submissions for variant NM_002834.3(PTPN11):c.*13A>G (rs201957261)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127658 SCV000171237 benign not specified 2013-10-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000127658 SCV000270773 likely benign not specified 2015-10-13 criteria provided, single submitter clinical testing c.*13A>G in the 3'UTR of PTPN11: This variant is not expected to have clinical significance because it has been identified in 0.1% (43/62072) of European chrom osomes by the Exome Aggregation Constortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs201957261).

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