ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.165C>T (p.His55=)

gnomAD frequency: 0.00004  dbSNP: rs796052449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187429 SCV000241018 benign not specified 2014-07-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054200 SCV002421885 likely benign Rett syndrome, congenital variant 2023-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002292483 SCV002585466 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing FOXG1: BP4, BP7

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