ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.554G>T (p.Ser185Ile)

dbSNP: rs1057516138
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000408825 SCV000484842 likely pathogenic Rett syndrome, congenital variant 2016-11-03 criteria provided, single submitter clinical testing

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