ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.885C>G (p.Ala295=) (rs61750253)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146346 SCV000193619 likely benign not specified 2013-12-11 criteria provided, single submitter clinical testing
Invitae RCV000462569 SCV000556749 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718077 SCV000848939 benign History of neurodevelopmental disorder 2017-02-03 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 RCV000146346 SCV000188259 benign not specified 2002-04-10 no assertion criteria provided curation

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