Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003119414 | SCV003790738 | uncertain significance | Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy | 2021-12-25 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the FTL gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FTL cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with FTL-related conditions. 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. |