ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.678C>T (p.Ser226=) (rs200874968)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000039491 SCV000170183 benign not specified 2013-05-07 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.
Invitae RCV000654987 SCV000776902 likely benign Rasopathy 2017-09-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039491 SCV000063180 likely benign not specified 2011-04-15 criteria provided, single submitter clinical testing Ser226Ser in exon 6 of MAP2K2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction.
PreventionGenetics RCV000039491 SCV000314700 likely benign not specified criteria provided, single submitter clinical testing

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