ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1341C>T (p.Ala447=)

gnomAD frequency: 0.00002  dbSNP: rs200639648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001530573 SCV001745451 likely benign not provided 2020-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071895 SCV002342024 likely benign Rett syndrome, congenital variant 2024-01-28 criteria provided, single submitter clinical testing

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