ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.621G>A (p.Glu207=)

gnomAD frequency: 0.00001  dbSNP: rs397517416
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Total submissions: 4
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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 RCV000043645 SCV000063178 likely benign not specified 2010-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000043645 SCV000513527 benign not specified 2015-07-14 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 RCV001412978 SCV001615080 likely benign RASopathy 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298088 SCV003995300 likely benign Cardiovascular phenotype 2023-04-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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