Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV004584208 | SCV005068291 | benign | FOXG1 disorder | 2024-02-23 | reviewed by expert panel | curation | The allele frequency of the p.Ser462Gly variant in FOXG1 is 0.147% in South Asian sub population in gnomAD v2, 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 Ser462Gly variant is found in a patient with an alternate molecular basis of disease (internal database - Invitae) (BP5). In summary, the p.Ser462Gly variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BP5). |
Genetic Services Laboratory, |
RCV000194286 | SCV000247411 | uncertain significance | not specified | 2015-06-24 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002054265 | SCV002410699 | benign | Rett syndrome, congenital variant | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003422095 | SCV004129159 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | FOXG1: PP2, BS1 |