ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.969del (p.Ser323fs)

dbSNP: rs786205011
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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 RCV000170085 SCV002026268 pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing
OMIM RCV000170085 SCV000035137 pathogenic Rett syndrome, congenital variant 2008-07-01 no assertion criteria provided literature only
RettBASE RCV000170085 SCV000222401 pathogenic Rett syndrome, congenital variant 2009-03-04 no assertion criteria provided curation

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