ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.756C>T (p.Thr252=) (rs61749746)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000133211 SCV000724296 likely benign not specified 2017-11-02 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.
Invitae RCV000874053 SCV001016176 likely benign not provided 2018-08-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000133211 SCV001362258 likely benign not specified 2019-06-25 criteria provided, single submitter clinical testing
Invitae RCV001500045 SCV001704822 likely benign Severe neonatal-onset encephalopathy with microcephaly 2018-08-24 criteria provided, single submitter clinical testing
RettBASE RCV000133211 SCV000188209 benign not specified 2006-02-03 no assertion criteria provided curation

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