ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.753C>T (p.Pro251=) (rs63582063)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719501 SCV000850368 likely benign History of neurodevelopmental disorder 2016-02-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712284 SCV000842735 benign not provided 2017-12-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000133227 SCV000193640 likely benign not specified 2015-04-10 criteria provided, single submitter clinical testing
Invitae RCV000541540 SCV000645676 benign Severe neonatal-onset encephalopathy with microcephaly 2017-01-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000133227 SCV000310762 likely benign not specified criteria provided, single submitter clinical testing
RettBASE RCV000133227 SCV000188227 benign not specified 2011-11-01 no assertion criteria provided curation

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