ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter)

dbSNP: rs267606827
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Total submissions: 3
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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 RCV000014885 SCV002026267 pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing
OMIM RCV000014885 SCV000035140 pathogenic Rett syndrome, congenital variant 2010-01-01 no assertion criteria provided literature only
RettBASE RCV000014885 SCV000222400 pathogenic Rett syndrome, congenital variant 2010-07-13 no assertion criteria provided curation

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