ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.1101_1201del (p.His367fs) (rs1557135315)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Cytogenetique,Hospices Civils de Lyon RCV000760272 SCV000890110 pathogenic Severe neonatal-onset encephalopathy with microcephaly; MECP2 duplication syndrome; Mental retardation, X-linked, syndromic 13; Rett syndrome 2017-07-03 criteria provided, single submitter clinical testing
RettBASE RCV000170131 SCV000222459 pathogenic Rett syndrome 2013-06-12 no assertion criteria provided curation

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