ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala) (rs148157138)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187444 SCV000241036 likely benign not specified 2016-12-21 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 RCV000540363 SCV000650052 likely benign Rett syndrome, congenital variant 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000187444 SCV000709200 likely benign not specified 2017-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719539 SCV000850407 benign History of neurodevelopmental disorder 2019-04-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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