ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.953A>C (p.Glu318Ala) (rs61751448)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000133297 SCV000203001 uncertain significance not provided 2014-01-31 criteria provided, single submitter clinical testing
RettBASE RCV000169948 SCV000188306 uncertain significance Rett syndrome 2004-08-06 no assertion criteria provided curation

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