ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) (rs61749724)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790737 SCV000230262 pathogenic not provided 2013-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623044 SCV000742648 pathogenic Inborn genetic diseases 2017-06-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
RettBASE RCV000169936 SCV000188172 pathogenic Rett syndrome 2007-11-01 no assertion criteria provided curation

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