ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.515dup (p.Glu173fs)

dbSNP: rs2138661058
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785376 SCV002026401 likely pathogenic Rett syndrome, congenital variant 2021-10-11 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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