Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002281053 | SCV002569935 | benign | FOXG1 disorder | 2022-08-25 | reviewed by expert panel | curation | The allele frequency of the p.Gln73dup variant in FOXG1 is 0.008% in European (non-Finnish) sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Gln73dup variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Gln73dup variant is an in-frame duplication present in a repetitive region of FOXG1 (BP3). In summary, the p.Gln73dup variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BS1, BS2, BP3). |
Eurofins Ntd Llc |
RCV000081278 | SCV000113186 | uncertain significance | not provided | 2012-12-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000187436 | SCV000241027 | likely benign | not specified | 2014-07-23 | criteria provided, single submitter | clinical testing | The variant is found in EPILEPSY panel(s). |
Genomic Diagnostic Laboratory, |
RCV000408838 | SCV000484839 | likely benign | Rett syndrome, congenital variant | 2016-11-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000408838 | SCV000677043 | likely benign | Rett syndrome, congenital variant | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311626 | SCV000846735 | likely benign | Inborn genetic diseases | 2024-07-18 | 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 |
RCV000081278 | SCV001149197 | benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | FOXG1: BP3, BS1, BS2 |
Prevention |
RCV003964933 | SCV004781412 | benign | FOXG1-related disorder | 2023-12-13 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |