ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.384G>A (p.Pro128=)

gnomAD frequency: 0.00001  dbSNP: rs727503156
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Total submissions: 3
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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 RCV000151010 SCV000198720 likely benign not specified 2013-04-15 criteria provided, single submitter clinical testing Pro128Pro in exon 3 of MAP2K2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction.
Invitae RCV001476321 SCV001680529 likely benign RASopathy 2023-03-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000151010 SCV001748757 likely benign not specified 2021-06-20 criteria provided, single submitter clinical testing

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