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
Labcorp Genetics (formerly Invitae), Labcorp 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: 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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