Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001507042 | SCV001711991 | benign | FOXG1 disorder | 2021-03-26 | reviewed by expert panel | curation | The allele frequency of the p.Pro67= variant in FOXG1 is 0.055% in European (Non-Finnish) sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The silent p.Pro67= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). In summary, the p.Pro67= variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BP7). |
Gene |
RCV001704050 | SCV000168581 | benign | not provided | 2020-06-26 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000125141 | SCV000247412 | likely benign | not specified | 2017-06-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000530287 | SCV000650045 | likely benign | Rett syndrome, congenital variant | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312875 | SCV000847539 | likely benign | Inborn genetic diseases | 2016-08-23 | 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 |
RCV001704050 | SCV004129152 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | FOXG1: BP4, BP7 |
Prevention |
RCV003952653 | SCV004770136 | likely benign | FOXG1-related disorder | 2023-04-04 | 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). |