ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.678C>T (p.Ser226=)

gnomAD frequency: 0.00026  dbSNP: rs200874968
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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.
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.
PreventionGenetics, part of Exact Sciences RCV000039491 SCV000314700 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000654987 SCV000776902 likely benign RASopathy 2024-01-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000039491 SCV001482074 benign not specified 2021-02-08 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237418 SCV002010928 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362632 SCV002663760 likely benign Cardiovascular phenotype 2022-03-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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