Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001230465 | SCV001402946 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-05-15 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.03%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 957479). This variant has not been reported in the literature in individuals affected with INF2-related conditions. This variant, c.1376_1387del, results in the deletion of 4 amino acid(s) of the INF2 protein (p.Pro459_Pro462del), but otherwise preserves the integrity of the reading frame. |
| Fulgent Genetics, |
RCV001230465 | SCV002782496 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2022-03-04 | criteria provided, single submitter | clinical testing |