ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.219GCC[8] (p.Pro79_Pro80dup)

dbSNP: rs786200975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315876 SCV000848485 likely benign Inborn genetic diseases 2016-12-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001474993 SCV001679173 likely benign Rett syndrome, congenital variant 2021-11-08 criteria provided, single submitter clinical testing
GeneDx RCV000576277 SCV001813518 uncertain significance not provided 2019-09-04 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame duplication in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge

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