ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) (rs61750246)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081193 SCV000113101 benign not specified 2013-03-08 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics RCV000172863 SCV000223845 benign Rett syndrome criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000172863 SCV000282502 benign Rett syndrome 2015-12-01 criteria provided, single submitter clinical testing
Invitae RCV000864677 SCV001005509 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
RettBASE RCV000081193 SCV000187895 benign not specified 2011-11-01 no assertion criteria provided curation

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