ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) (rs144434028)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715046 SCV000845870 likely benign History of neurodevelopmental disorder 2016-04-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Athena Diagnostics Inc RCV000125146 SCV000613346 benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000611927 SCV000733376 likely benign Rett syndrome, congenital variant no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726770 SCV000702928 uncertain significance not provided 2016-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000125146 SCV000168586 benign not specified 2013-04-03 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000611927 SCV000744032 likely benign Rett syndrome, congenital variant 2017-11-03 criteria provided, single submitter clinical testing

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