ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.705+10C>T

gnomAD frequency: 0.00004  dbSNP: rs372898071
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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 RCV000039492 SCV000063181 likely benign not specified 2008-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000680363 SCV000532291 likely benign not provided 2016-10-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054767 SCV002376850 likely benign RASopathy 2021-12-18 criteria provided, single submitter clinical testing

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