ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1158C>G (p.Ala386=)

gnomAD frequency: 0.00007  dbSNP: rs143223844
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698390 SCV000534379 benign not provided 2021-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060047 SCV002447829 likely benign Rett syndrome, congenital variant 2023-12-21 criteria provided, single submitter clinical testing

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