ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1320C>G (p.Ser440=)

dbSNP: rs1057524328
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431003 SCV000535219 likely benign not specified 2016-12-23 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 RCV000527445 SCV000650042 likely benign Rett syndrome, congenital variant 2022-10-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532241 SCV001747712 likely benign not provided 2021-02-01 criteria provided, single submitter clinical testing

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