Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002260611 | SCV002540690 | benign | FOXG1 disorder | 2022-02-18 | reviewed by expert panel | curation | The p.Ser441= variant in FOXG1 has an allele frequency of 0.049% in the South Asian 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). In summary, the p.Ser441= variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1). |
Gene |
RCV000125146 | SCV000168586 | benign | not specified | 2013-04-03 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics | RCV000125146 | SCV000613346 | benign | not specified | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726770 | SCV000702928 | uncertain significance | not provided | 2016-11-28 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000611927 | SCV000744032 | likely benign | Rett syndrome, congenital variant | 2017-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312562 | SCV000845870 | likely benign | Inborn genetic diseases | 2016-04-07 | 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 |
RCV000611927 | SCV001002169 | benign | Rett syndrome, congenital variant | 2023-12-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000726770 | SCV004129158 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | FOXG1: BP4, BP7 |
Diagnostic Laboratory, |
RCV000611927 | SCV000733376 | likely benign | Rett syndrome, congenital variant | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000726770 | SCV001974965 | likely benign | not provided | no assertion criteria provided | clinical testing |