ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.429C>G (p.Ala143=) (rs61748385)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000133090 SCV000247966 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415752 SCV000493381 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000133090 SCV000513558 likely benign not specified 2017-09-28 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.
Ambry Genetics RCV000721058 SCV000851943 likely benign History of neurodevelopmental disorder 2013-08-14 criteria provided, single submitter clinical testing
Invitae RCV000415752 SCV001001925 benign not provided 2018-03-28 criteria provided, single submitter clinical testing
RettBASE RCV000133090 SCV000188079 benign not specified 2010-03-10 no assertion criteria provided curation

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