ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.204C>T (p.Pro68=) (rs61754435)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000133027 SCV000513556 benign not specified 2015-03-24 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000133027 SCV000604147 benign not specified 2016-09-30 criteria provided, single submitter clinical testing
Invitae RCV001088114 SCV000645662 benign Severe neonatal-onset encephalopathy with microcephaly 2020-11-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000544803 SCV001150520 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
RettBASE RCV000133027 SCV000188014 benign not specified 2006-02-03 no assertion criteria provided curation

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