ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.683C>G (p.Ser228Cys)

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Total submissions: 1
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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 RCV003494088 SCV004242482 likely pathogenic Rett syndrome, congenital variant 2023-12-04 criteria provided, single submitter clinical testing Criteria applied: PM1,PM2_SUP,PP3,PS2_MOD

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