ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) (rs179363901)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics RCV000012619 SCV000223841 likely pathogenic Rett syndrome criteria provided, single submitter clinical testing
OMIM RCV000012619 SCV000032854 pathogenic Rett syndrome 2009-04-01 no assertion criteria provided literature only
RettBASE RCV000012619 SCV000222627 likely pathogenic Rett syndrome 2016-04-26 no assertion criteria provided research

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