ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.546G>A (p.Ala182=) (rs141402203)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000226018 SCV000616577 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.546G>A (p.Ala182=) variant in the MAP2K2 gene is 0.083% (7/3952) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
GeneDx RCV000126673 SCV000170182 benign not specified 2013-08-04 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.
Invitae RCV000858737 SCV000290940 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000126673 SCV000314697 likely benign not specified criteria provided, single submitter clinical testing

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