ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1170C>A (p.Cys390Ter)

dbSNP: rs1392520466
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001172075 SCV001335012 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
Center of Excellence for Medical Genomics, Chulalongkorn University RCV002281584 SCV002570072 pathogenic Rett syndrome, congenital variant 2002-09-08 no assertion criteria provided research

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