ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1011_1015dup (p.Met339fs)

dbSNP: rs1881815891
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia RCV001263434 SCV001424317 likely pathogenic Rett syndrome, congenital variant criteria provided, single submitter clinical testing

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