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
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.
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)
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625449 SCV000745386 likely benign Cardiofaciocutaneous syndrome 4 2015-06-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039488 SCV000231186 likely benign not specified 2015-01-09 criteria provided, single submitter clinical testing
Invitae RCV000229923 SCV000290941 benign Rasopathy 2017-10-05 criteria provided, single submitter clinical testing
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:/ /evs.gs.washington.edu/EVS/; dbSNP rs201435249)
PreventionGenetics RCV000039488 SCV000314698 likely benign not specified criteria provided, single submitter clinical testing

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