Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003111119 | SCV003793135 | uncertain significance | X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome | 2021-12-19 | criteria provided, single submitter | clinical testing | A copy number gain of the genomic region encompassing the full coding sequence of the WAS 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 WAS-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. |
Labcorp Genetics |
RCV004579591 | SCV005064423 | uncertain significance | Neurodegeneration with brain iron accumulation 5 | 2023-11-27 | criteria provided, single submitter | clinical testing | A copy number gain of the genomic region encompassing the full coding sequence of the WDR45 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 WDR45-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. |
Labcorp Genetics |
RCV004579592 | SCV005064435 | uncertain significance | SLC35A2-congenital disorder of glycosylation | 2023-11-27 | criteria provided, single submitter | clinical testing | A copy number gain of the genomic region encompassing the full coding sequence of the SLC35A2 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 SLC35A2-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. |