ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.786C>T (p.Arg262=) (rs61748424)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146357 SCV000193639 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000528933 SCV000645675 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719406 SCV000850273 likely benign History of neurodevelopmental disorder 2016-10-17 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
RettBASE RCV000146357 SCV000188222 benign not specified 2013-12-05 no assertion criteria provided curation

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