ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.189G>T (p.Pro63=)

gnomAD frequency: 0.00002  dbSNP: rs796052451
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187432 SCV000241022 benign not specified 2014-10-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000943970 SCV001089929 likely benign Rett syndrome, congenital variant 2019-03-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703451 SCV005211904 likely benign not provided criteria provided, single submitter not provided

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