ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.66A>G (p.Thr22=) (rs397516808)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037655 SCV000061317 likely benign not specified 2008-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000037655 SCV000714546 likely benign not specified 2017-10-04 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.
Invitae RCV000654980 SCV000776891 likely benign Rasopathy 2017-11-12 criteria provided, single submitter clinical testing

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