ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys)

dbSNP: rs879255530
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000239423 SCV000297797 likely pathogenic Rett syndrome, congenital variant 2016-07-14 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV000239423 SCV002026240 likely pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing

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