ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.939G>T (p.Arg313=)

gnomAD frequency: 0.00008  dbSNP: rs397517417
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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 RCV000039498 SCV000063187 likely benign not specified 2008-08-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000039498 SCV000314707 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000862266 SCV001002747 likely benign RASopathy 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162346 SCV003869413 likely benign Cardiovascular phenotype 2022-11-17 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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