ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.933G>T (p.Ser311=)

dbSNP: rs1481653005
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002540879 SCV001059952 likely benign Rett syndrome, congenital variant 2023-10-22 criteria provided, single submitter clinical testing
GeneDx RCV000914767 SCV001791653 likely benign not provided 2019-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372541 SCV002685447 likely benign Inborn genetic diseases 2020-07-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences RCV003983273 SCV004797276 likely benign FOXG1-related disorder 2022-12-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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