Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704231 | SCV000241016 | likely benign | not provided | 2019-09-16 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22190898) |
Labcorp Genetics |
RCV000918423 | SCV001063733 | likely benign | Rett syndrome, congenital variant | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV004558420 | SCV005046853 | likely benign | FOXG1 disorder | 2024-05-08 | criteria provided, single submitter | curation | This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as likely benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD v4 is between 0.008% and 0.03% (BS1). Inframe expansions in FOXG1 repetitive regions (BP3) |
Rett |
RCV000170066 | SCV000222375 | benign | not specified | 2012-05-18 | no assertion criteria provided | curation | |
Prevention |
RCV003965222 | SCV004784225 | likely benign | FOXG1-related disorder | 2022-02-07 | 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). |