ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro) (rs587783633)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145985 SCV000193134 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000145985 SCV000241024 likely benign not specified 2016-12-01 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 RCV000576256 SCV000676977 benign Rett syndrome, congenital variant 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720137 SCV000851014 likely benign History of neurodevelopmental disorder 2017-12-06 criteria provided, single submitter clinical testing In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance)

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