ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.791del (p.Gly264fs)

dbSNP: rs61750232
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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 RCV000133230 SCV000247994 pathogenic Rett syndrome 2013-02-08 criteria provided, single submitter clinical testing
RettBASE RCV000133230 SCV000188230 pathogenic Rett syndrome 2004-08-06 no assertion criteria provided curation

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