Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003113551 | SCV003793820 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-08-10 | criteria provided, single submitter | clinical testing | 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. Isolated whole-gene copy number gains of TGFBR1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 20813212). A copy number gain of the genomic region encompassing the full coding sequence of the TGFBR1 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. |
| Labcorp Genetics |
RCV003113550 | SCV003796178 | uncertain significance | ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 | 2022-06-22 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ALG2-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. A copy number gain of the genomic region encompassing the full coding sequence of the ALG2 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. |