ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) (rs267608370)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146354 SCV000193632 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000863049 SCV001003642 likely benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
RettBASE RCV000146354 SCV000188001 benign not specified 2010-05-14 no assertion criteria provided curation

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