ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) (rs61753973)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146352 SCV000193628 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000146352 SCV000513574 likely benign not specified 2017-11-16 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.
Invitae RCV001089023 SCV000556733 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000146352 SCV000708129 likely benign not specified 2017-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715544 SCV000846373 benign History of neurodevelopmental disorder 2018-05-31 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Other data supporting benign classification;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CeGaT Praxis fuer Humangenetik Tuebingen RCV000471943 SCV001150510 likely benign not provided 2019-01-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000146352 SCV001157690 likely benign not specified 2019-01-23 criteria provided, single submitter clinical testing
RettBASE RCV000132986 SCV000187970 likely benign Mental retardation, X-linked, syndromic 13 2016-04-26 no assertion criteria provided research
RettBASE RCV000170236 SCV000222566 likely benign Attention deficit hyperactivity disorder 2016-04-26 no assertion criteria provided research
RettBASE RCV000170237 SCV000222567 likely benign Autism, susceptibility to, X-linked 3 2016-04-26 no assertion criteria provided research

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