ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.447C>T (p.Ala149=) (rs112803404)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000145989 SCV000168582 likely benign not specified 2017-08-24 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 RCV000145989 SCV000193138 benign not specified 2017-06-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145989 SCV000224472 likely benign not specified 2016-04-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415955 SCV000493531 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV000415955 SCV000650049 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000545830 SCV000745497 likely benign Rett syndrome, congenital variant 2017-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720350 SCV000851227 likely benign History of neurodevelopmental disorder 2016-09-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000545830 SCV000733375 likely benign Rett syndrome, congenital variant no assertion criteria provided clinical testing

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