Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187442 | SCV000241034 | likely benign | not specified | 2014-11-17 | criteria provided, single submitter | clinical testing | The variant is found in INFANT-EPI panel(s). |
Eurofins Ntd Llc |
RCV000187442 | SCV000343869 | likely benign | not specified | 2016-07-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003629105 | SCV004560758 | uncertain significance | Rett syndrome, congenital variant | 2023-05-16 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 205472). This variant has not been reported in the literature in individuals affected with FOXG1-related conditions. This variant is present in population databases (rs796052456, gnomAD 0.08%). This variant, c.386_397dup, results in the insertion of 4 amino acid(s) of the FOXG1 protein (p.Glu129_Gly132dup), but otherwise preserves the integrity of the reading frame. |