ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.405G>C (p.Gly135=) (rs10424722)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000149844 SCV000616583 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.405G>C (p.Gly135=) variant in the MAP2K2 gene is 14.69% (1588/10368) 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)
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039480 SCV000063167 benign not specified 2008-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039480 SCV000314686 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000757447 SCV000561663 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757447 SCV000885672 benign not provided 2017-06-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000149844 SCV000196689 benign Rasopathy no assertion criteria provided clinical testing Variant classified using ACMG guidelines

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