ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs) (rs267608615)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146351 SCV000193626 pathogenic Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome 2013-02-08 criteria provided, single submitter clinical testing
RettBASE RCV000132965 SCV000187949 pathogenic not provided 2011-02-15 no assertion criteria provided curation

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