ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1397G>A (p.Gly466Glu)

dbSNP: rs1566446008
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679987 SCV000807424 uncertain significance Rett syndrome, congenital variant 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 2-year-old female with global delays, regression, hypotonia, failure the thrive, constipation, irritability

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