ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.846C>T (p.Pro282=) (rs11539506)

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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 RCV000197348 SCV000616568 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.846C>T (p.Pro282=) variant in the MAP2K2 gene is 0.515% (46/6886) of Latino 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 RCV000039496 SCV000063185 benign not specified 2010-01-27 criteria provided, single submitter clinical testing
Invitae RCV000757448 SCV000252872 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039496 SCV000314704 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000054 SCV000885673 benign Cardiofaciocutaneous syndrome 4 2018-08-07 criteria provided, single submitter clinical testing

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