Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV004584206 | SCV005068287 | benign | FOXG1 disorder | 2024-04-18 | reviewed by expert panel | curation | The p.Ser425Pro variant in FOXG1 is present in one XX and one XY individual in gnomAD v2.1.1 (0.00176%) (not sufficient to meet BS1 criteria). The p.Ser425Pro variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). The p.Ser425Pro variant is found in at least 3 patients with an alternate molecular basis of disease (GeneDx internal database) (BP5_Strong). In summary, the p.Ser425Pro variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BS2, BP5_strong). |
Gene |
RCV000711707 | SCV000241039 | likely benign | not provided | 2020-12-15 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000711707 | SCV000842094 | uncertain significance | not provided | 2018-04-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001246869 | SCV001420258 | likely benign | Rett syndrome, congenital variant | 2023-10-18 | criteria provided, single submitter | clinical testing |