ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.529-12G>A

gnomAD frequency: 0.00014  dbSNP: rs375701469
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126672 SCV000170181 benign not specified 2013-09-08 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000126672 SCV000270397 likely benign not specified 2015-01-16 criteria provided, single submitter clinical testing c.529-12G>A in intron 4 of MAP2K2: This variant is not expected to have clinical significance because it has been identified in 0.2% (16/8642) of South Asian ch romosomes and 0.25% (3/1192) of Latino chromosomes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org; dbSNP rs375701469). This variant i s located in the 3' splice region and computational tools do not suggest an impa ct to splicing.
Invitae RCV002055665 SCV002381840 benign RASopathy 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000126672 SCV004100118 benign not specified 2023-09-25 criteria provided, single submitter clinical testing

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