ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.377+1G>T (rs267608463)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626871 SCV000747574 pathogenic Stereotypy; Delayed speech and language development; Delayed gross motor development; Bruxism 2017-01-01 criteria provided, single submitter clinical testing
RettBASE RCV000144100 SCV000189176 not provided not provided no assertion provided not provided
RettBASE RCV000170192 SCV000222521 pathogenic Rett syndrome 2008-02-18 no assertion criteria provided curation

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