Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003065654 | SCV003458008 | likely benign | Rett syndrome, congenital variant | 2023-06-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004750809 | SCV005364279 | uncertain significance | FOXG1-related disorder | 2024-05-09 | no assertion criteria provided | clinical testing | The FOXG1 c.162_167del6 variant is predicted to result in an in-frame deletion (p.His56_His57del). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |