ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) (rs61753012)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000169923 SCV000113103 benign not specified 2015-03-10 criteria provided, single submitter clinical testing
GeneDx RCV000169923 SCV000170233 benign not specified 2012-12-12 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.
Genetic Services Laboratory,University of Chicago RCV000169923 SCV000247942 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000755298 SCV000556743 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000169923 SCV000604148 benign not specified 2019-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720763 SCV000851644 likely benign History of neurodevelopmental disorder 2016-01-29 criteria provided, single submitter clinical testing
RettBASE RCV000169923 SCV000187939 benign not specified 2013-12-05 no assertion criteria provided curation

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