ClinVar Miner

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

gnomAD frequency: 0.00026  dbSNP: rs587783633
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Total submissions: 5
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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 2023-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316930 SCV000851014 likely benign Inborn genetic diseases 2017-12-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity Omics RCV000576256 SCV003833645 uncertain significance Rett syndrome, congenital variant 2021-03-17 criteria provided, single submitter clinical testing

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