ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) (rs61754453)

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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 RCV000170238 SCV000247963 pathogenic Rett syndrome 2013-02-08 criteria provided, single submitter clinical testing
RettBASE RCV000133058 SCV000188046 uncertain significance Angelman syndrome 2011-02-15 no assertion criteria provided curation
RettBASE RCV000170238 SCV000222568 uncertain significance Rett syndrome 2011-02-15 no assertion criteria provided curation

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