ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs)

dbSNP: rs786205003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000170076 SCV000247418 pathogenic Rett syndrome, congenital variant 2013-02-08 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000170076 SCV002026231 pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing
RettBASE RCV000170076 SCV000222387 pathogenic Rett syndrome, congenital variant 2011-09-26 no assertion criteria provided curation

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