ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.580+6G>A (rs201435249)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000229923 SCV000616576 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.580+6G>A variant in the MAP2K2 gene is 0.311% (91/24374) 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)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039488 SCV000063176 benign not specified 2013-02-20 criteria provided, single submitter clinical testing 580+6G>A in intron 5 of MEK2: This variant is not expected to have clinical sign ificance because it has been identified in 0.3% (28/8592) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /; dbSNP rs201435249)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039488 SCV000231186 likely benign not specified 2015-01-09 criteria provided, single submitter clinical testing
Invitae RCV000443089 SCV000290941 benign not provided 2019-01-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039488 SCV000314698 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000443089 SCV000510875 likely benign not provided 2016-11-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625449 SCV000745386 likely benign Cardiofaciocutaneous syndrome 4 2015-06-11 criteria provided, single submitter clinical testing

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