ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.1138G>A (p.Val380Met) (rs267608572)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724404 SCV000230274 uncertain significance not provided 2015-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000235171 SCV000190993 likely benign not specified 2018-02-15 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.
Integrated Genetics/Laboratory Corporation of America RCV000225614 SCV000282500 likely benign Rett syndrome 2015-09-11 criteria provided, single submitter clinical testing
Invitae RCV000528373 SCV000645652 benign Severe neonatal-onset encephalopathy with microcephaly 2017-11-18 criteria provided, single submitter clinical testing
RettBASE RCV000169942 SCV000187850 uncertain significance Mental retardation, X-linked, syndromic 13 2010-07-13 no assertion criteria provided curation

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