ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.*14G>A (rs199963992)

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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 RCV000081189 SCV000113097 likely benign not specified 2015-08-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081189 SCV000595747 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000678230 SCV001882342 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
RettBASE RCV000169941 SCV000187753 uncertain significance Rett syndrome 2013-12-05 no assertion criteria provided curation
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000678230 SCV000804248 uncertain significance not provided 2015-04-03 no assertion criteria provided clinical testing

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