ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) (rs61749738)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146356 SCV000193638 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000146356 SCV000604144 benign not specified 2016-09-07 criteria provided, single submitter clinical testing
Invitae RCV000535349 SCV000645673 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000146356 SCV000700306 benign not specified 2017-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715147 SCV000845975 benign History of neurodevelopmental disorder 2016-06-27 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
RettBASE RCV000146356 SCV000188196 benign not specified 2013-12-05 no assertion criteria provided curation

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