Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001939883 | SCV002186768 | uncertain significance | Amyotrophic lateral sclerosis type 1 | 2022-10-07 | criteria provided, single submitter | clinical testing | A copy number gain of the genomic region encompassing the full coding sequence of the SOD1 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. A similar copy number variant has been observed in individual(s) with clinical features of amyotrophic lateral sclerosis (Invitae). 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. |
| Labcorp Genetics |
RCV003107882 | SCV003793571 | uncertain significance | DYRK1A-related intellectual disability syndrome | 2022-10-27 | criteria provided, single submitter | clinical testing | A copy number gain of the genomic region encompassing the full coding sequence of the DYRK1A 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. Isolated whole-gene copy number gains of DYRK1A have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 17237124, 23512985). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Labcorp Genetics |
RCV004579580 | SCV005068070 | uncertain significance | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2024-01-23 | criteria provided, single submitter | clinical testing | A copy number gain of the genomic region encompassing the full coding sequence of the RUNX1 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. A similar copy number variant has been observed in individual(s) with pancytopenia (Invitae). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Labcorp Genetics |
RCV004579581 | SCV005068082 | uncertain significance | Immunodeficiency 28 | 2024-01-23 | criteria provided, single submitter | clinical testing | A copy number gain of the genomic region encompassing the full coding sequence of the IFNGR2 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. This variant has not been reported in the literature in individuals affected with IFNGR2-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. |