Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV004582945 | SCV005064024 | pathogenic | Fabry disease | 2023-10-14 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the GLA gene has been identified. Loss-of-function variants in GLA are known to be pathogenic (PMID: 10666480, 12175777). 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 GLA-related conditions. For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV004582946 | SCV005065544 | pathogenic | X-linked agammaglobulinemia with growth hormone deficiency | 2023-10-14 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the BTK gene has been identified. Loss-of-function variants in BTK are known to be pathogenic (PMID: 15661032, 16862044, 19419768). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with BTK-related conditions (PMID: 31795557). For these reasons, this variant has been classified as Pathogenic. |