ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) (rs61749751)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000169937 SCV000247993 pathogenic Rett syndrome 2013-02-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000133226 SCV000510660 pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing
RettBASE RCV000133226 SCV000188225 not provided not provided no assertion provided not provided
RettBASE RCV000169937 SCV000188226 pathogenic Rett syndrome 2011-02-15 no assertion criteria provided curation

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