ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.498C>T (p.Pro166=) (rs139404261)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000458075 SCV000616580 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.498C>T (p.Pro166=) variant in the MAP2K2 gene is 0.081% (37/33932) of European 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)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726603 SCV000701758 uncertain significance not provided 2016-10-14 criteria provided, single submitter clinical testing
Invitae RCV000458075 SCV000561660 benign Rasopathy 2017-11-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039485 SCV000063173 likely benign not specified 2012-11-13 criteria provided, single submitter clinical testing Pro166Pro in exon 4 of MAP2K2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.13% (11/8600) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/; dbSNP rs139404261).
PreventionGenetics RCV000039485 SCV000314690 likely benign not specified criteria provided, single submitter clinical testing

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