ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.115CAC[1] (p.His40del)

dbSNP: rs756685121
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001063843 SCV001228706 likely benign Rett syndrome, congenital variant 2023-08-04 criteria provided, single submitter clinical testing
GeneDx RCV001566232 SCV001789720 likely benign not provided 2019-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339319 SCV002636613 likely benign Inborn genetic diseases 2018-01-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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