ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.132C>A (p.His44Gln)

dbSNP: rs796052446
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187426 SCV000241014 likely benign not specified 2013-12-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001474460 SCV001678630 likely benign Rett syndrome, congenital variant 2022-01-06 criteria provided, single submitter clinical testing

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