ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter) (rs61749739)

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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 RCV000193948 SCV000247985 pathogenic Rett syndrome 2013-02-08 criteria provided, single submitter clinical testing
RettBASE RCV000133199 SCV000188197 pathogenic not provided 2011-02-15 no assertion criteria provided curation
Biochemistry Laboratory of CDMU,Chengde Medical University RCV000193948 SCV000899198 pathogenic Rett syndrome no assertion criteria provided case-control

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