ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) (rs61750243)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081213 SCV000113121 benign not specified 2013-10-11 criteria provided, single submitter clinical testing
GeneDx RCV001704000 SCV000513564 likely benign not provided 2018-04-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16376510, 17387578)
Invitae RCV001522063 SCV001731529 benign Severe neonatal-onset encephalopathy with microcephaly 2020-01-30 criteria provided, single submitter clinical testing
RettBASE RCV000081213 SCV000188250 benign not specified 2010-03-10 no assertion criteria provided curation

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