Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003235073 | SCV003933688 | likely benign | FOXG1 disorder | 2023-04-17 | reviewed by expert panel | curation | The c.234_236dup (p.Pro79_Pro80insPro) variant is observed in at least 2 unaffected individuals (GeneDx internal database)(BS2). The c.234_236dup variant is an in-frame duplication present in a repetitive region of FOXG1 (BP3). The c.234_236dup variant is found in a patient with an alternate molecular basis of disease (GeneDx internal database) (BP5). In summary, the c.234_236dup (p.Pro79_Pro80insPro) variant in FOXG1 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP3, BP5). |
Eurofins Ntd Llc |
RCV000153263 | SCV000202738 | uncertain significance | not provided | 2015-05-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000153263 | SCV000241029 | benign | not provided | 2019-12-13 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000408882 | SCV000484840 | likely benign | Rett syndrome, congenital variant | 2016-11-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000187438 | SCV000594857 | likely benign | not specified | 2016-04-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000408882 | SCV000650046 | benign | Rett syndrome, congenital variant | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312991 | SCV000847889 | likely benign | Inborn genetic diseases | 2017-12-14 | 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. |
Ce |
RCV000153263 | SCV004129153 | benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | FOXG1: BS1, BS2 |
Prevention |
RCV003907447 | SCV004726887 | likely benign | FOXG1-related disorder | 2023-08-25 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |