ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.246C>T (p.Ser82=) (rs61754439)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169926 SCV000170215 benign not specified 2012-11-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory,University of Chicago RCV000169926 SCV000247958 benign not specified 2016-10-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000169926 SCV000330973 benign not specified 2015-07-22 criteria provided, single submitter clinical testing
Invitae RCV000477494 SCV000556748 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717918 SCV000848779 benign History of neurodevelopmental disorder 2017-01-17 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 RCV000169926 SCV000188019 benign not specified 2003-03-31 no assertion criteria provided curation

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