ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.919+12A>G (rs350911)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039497 SCV000063186 benign not specified 2012-05-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039497 SCV000314705 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039497 SCV000337886 benign not specified 2015-11-20 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509309 SCV000607343 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603060 SCV000733887 benign Cardiofaciocutaneous syndrome 4 no assertion criteria provided clinical testing

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