ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.978C>T (p.Ile326=) (rs61751446)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000133295 SCV000248008 benign not specified 2017-06-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000133295 SCV000341193 likely benign not specified 2016-05-04 criteria provided, single submitter clinical testing
Invitae RCV000472062 SCV000556750 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717800 SCV000848659 benign History of neurodevelopmental disorder 2017-01-03 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
RettBASE RCV000133295 SCV000188304 benign not specified 2011-03-29 no assertion criteria provided curation

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