ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.660C>A (p.Ile220=) (rs10250)

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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 RCV000149846 SCV000616574 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.660C>A (p.Ile220=) variant in the MAP2K2 gene is 65.271% (3631/5412) 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 RCV000039490 SCV000063179 benign not specified 2007-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039490 SCV000314699 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000860221 SCV001000201 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Baylor Miraca Genetics Laboratories, RCV000149846 SCV000196691 benign Rasopathy no assertion criteria provided clinical testing Variant classified using ACMG guidelines
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000610143 SCV000733888 benign Cardiofaciocutaneous syndrome 4 no assertion criteria provided clinical testing

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