ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) (rs267608520)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000194193 SCV000247991 pathogenic Rett syndrome 2013-02-08 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000194193 SCV000537197 pathogenic Rett syndrome 2015-07-17 criteria provided, single submitter clinical testing Loss of developmental milestones including verbal language; Non-purposeful eye and hand movements including hand wringing and slapping
RettBASE RCV000133215 SCV000188214 pathogenic not provided 2011-02-15 no assertion criteria provided curation

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